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Purpose: The objective of this study was to find the association between fetal hemoglobin (HbF) concentration and retinopathy of prematurity (ROP) in preterm infants. Methods: In this observational, prospective, longitudinal study, a total of 410 preterm infants with <36 gestational weeks and <2.5 kg birth weight, who were attending ROP clinic in a tertiary care hospital of central India for 1 year duration were included. Dilated fundus examination was done as per ROP screening guidelines, and ROP was staged as per international classification for retinopathy of prematurity (ICROP) classification, 2021. HbF (%) was measured with high-performance liquid chromatography, and data was analyzed statistically. The relationship between HbF (%) and ROP was evaluated. Those infants who had ROP were further divided into treatment-requiring and non-treatment-requiring groups and HbF was compared in these groups at the first visit and after 1-month follow-up period. The outcome of ROP was studied with HbF levels. Results: A total of 410 preterm infants were included, out of which 110 infants had ROP (26.8%). Infants with ROP had significantly lower percentage of HbF with gestational age groups and birth weight groups, compared to infants without ROP. Higher percentage of HbF was associated with a lower prevalence of ROP. Higher concentration of HbF was found in the ROP infants who regressed spontaneously without treatment and less concentration was found in those who progressed to a severe disease and those who required treatment. The predictive ability of HbF (%) was 0.976 for ROP. Conclusion: Low fraction of HbF was found to be significantly associated with the development and progression of ROP. [ABSTRACT FROM AUTHOR]

Purpose: The objective of this study was to identify the association between fetal hemoglobin (HbF) concentration, blood transfusion, and retinopathy of prematurity (ROP) in preterm infants. Methods: This was an observational, prospective study. A total of 410 preterm infants born with <36 weeks gestational age and <2.0 kg birth weight in a tertiary care center of central India for a period of 1 year were included in this study. Clinical data were obtained from case notes. HbF of infants was measured in the blood sample using high-performance liquid chromatography at the first visit and after 1 month follow-up and was analyzed statistically. Dilated fundus examination was done as per ROP screening guidelines, and ROP was classified as per the International Classification of Retinopathy of Prematurity (ICROP), 2021. The study subjects were divided into two groups based on the status of ROP. The relationship among HbF, blood transfusion, and ROP was evaluated in both the groups. The relationship between other clinical characteristics and various neonatal risk factors was also studied between the groups. Results: A total of 410 preterm infants were included in this study, of which 110 infants had ROP (26.8%). Blood transfusion was found to be significantly associated with the development of ROP. Higher fraction of HbF (%) was associated with a lower prevalence of ROP. HbF was also inversely related with the severity of ROP. Conclusion: Replacing HbF by adult hemoglobin during blood transfusion may promote the development of ROP. Conversely, maintaining a higher percentage of HbF may be a protective factor against ROP. [ABSTRACT FROM AUTHOR]

Sickle cell disease (SCD) is a disease of abnormal hemoglobin associated with severe clinical phenotype and recurrent complications. Hydroxyurea (HU) is one of the US-FDA approved and commonly used drug for the treatment of adult SCD patients with clinical -severity. However, its use in the pediatric groups remains atypical. Despite a high prevalence of the disease in the state Chhattisgarh, there is a lack of evidence supporting its use in pediatric patients. This study aimed to evaluate the pharmacological and clinical efficacy and safety of HU in a large pediatric cohort with SCD from Central India. The study cohort consisted of 164 SCD (138 Hb SS and 26 Hb S beta-thalassemia) children (≤14 years of age) on HU therapy, who were monitored for toxicity, hematological and clinical efficacy at baseline (Pre-HU) and after 24 months (Post-HU). The results highlight the beneficial effects of HU at a mean dose of 18.7 ± 7.0 mg/kg/day. A significant improvement was observed, not only in physical and clinical parameters but also in hematological parameters which include fetal hemoglobin (Hb F), total hemoglobin, hematocrit, mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) levels, when evaluated against the baseline. We did not observe any significant adverse effects during the treatment period. Similar results were obtained on independent analysis of Hb SS and Hb Sβ patients. These findings strengthen the beneficial effect of hydroxyurea in pediatric population also without any serious adverse effects and builds up ground for expanding its use under regular monitoring. [ABSTRACT FROM AUTHOR]

Background: Spleen has been found to be the earliest organ involved in sickle cell disease (SCD) patients with variable manifestations in different geographical regions. It usually undergoes autosplenectomy by adolescence but in countries like India, the course of the disease and splenic manifestations are different. And here we aim to study these differences and the relationship between spleen size and fetal hemoglobin (HbF) and various splenic complications in our patients with sickle cell disease. Materials and Methods: This is an observational study of 62 adult patients with sickle cell disease admitted in our prestigious institute in the northwestern part of India, mostly hailing from the tribal population. The clinical and ultrasonographic methods have been used to identify splenomegaly and spleen size and prevalence have been calculated. The correlation coefficient has been calculated between fetal hemoglobin, sickle hemoglobin, and spleen size. Results: The analysis done revealed that 77.4% of patients had abnormal spleen with high average HbF(14.9±5.0) values compared to those who had normal spleen(12.12±4.1). Only 2 patients were found to have no spleen and 3.3% had splenic infarct. All patients with splenomegaly had anemia, 51.6% of patients were in sickle cell crisis and 22.5% were having infections. We also found a weak but positive correlation between spleen size and HbF. Conclusion: This study revealed the persistence of the spleen, the high prevalence of splenomegaly in the Indian adult population with sickle cell disease, and higher levels of fetal hemoglobin, the exact reason for which is still a subject of speculation that needs research. But this paper provides clear evidence of different natural courses of SCD in India. [ABSTRACT FROM AUTHOR]

Background: Hemoglobinopathies refer to a range of diseases, in which the hemoglobin (Hb) molecule’s synthesis or structure is aberrant. It is passed down through the generations (inherited). Hb C illness, Hb S-C disease, sickle cell anemia, and thalassemia are all part of this group. Hemoglobinopathies are the most frequent genetically inherited red blood cell condition on the planet. Hb variant screening and precise identification have become more crucial in the antenatal diagnosis and prevention of Hb diseases. Aims and Objectives: For Hb analysis, cation exchange high-performance liquid chromatography (HPLC) has emerged as the method of choice. This research was brought up to diagnose numerous hemoglobinopathies and also to measure distinct Hb fractions. Materials and Methods: Four hundred and seventy participants were examined for hemoglobinopathies in the investigation. Different fractions of Hb were compared to patients with normal Hb after diagnosis. Results: Normal HPLC, SCA (Hb SS), sickle cell trait (SCT), and -thalassemia trait were discovered in 110 (23.4%), 130 (27.6%), 210 (44.6%), and 20 (4.2%) individuals, respectively, out of 470 patients. Rare hemoglobinopathies such as tenacious fetal Hb (PFH), Hb E, Hb D-Punjab, and Hb Q India accounted for 15 (3.1%) of the sufferers. Patients with SCA had a mean percent of Hb S, Hb F, Hb A, and Hb A2 of 81.6±74.6, 22.9±13.9, 3.1±6.1, and 2.5±1.02, respectively. Hb F was 22.9±13.9% on average, which was much higher than normal and SCT. A high HbA2 level (>3.5%) indicated the existence of the β-thalassemia trait. Conclusion: In the included section of the population, SCD is the most common kind of hemoglobinopathy, both homozygous and heterozygous. Hb F concentrations are observed to be elevated in SCA patients, and it is thought to be a key element in protecting patients from problems. Raised Hb A2, which indicates the presence of the β-thalassemia trait, was also discovered in this area, and it is suspected when the value is >3.7%. Cation exchange HPLC is ideal for routine hemoglobinopathies research due to its high resolution, short test time, and precise quantification. [ABSTRACT FROM AUTHOR]

Background: Sickle cell disease (SCD), also known as sickle cell anemia, is a dangerous disease in which the body produces an abnormal form of hemoglobin, the protein in red blood cells that transport oxygen throughout the body. The body produces sickle-or crescentshaped red blood cells as a result of this genetic change. Aims and Objectives: This study aims to study on HemoTypeSC™ test for the rapid screening of SCD patients in Government Medical College and Hospital, Ambikapur. Materials and Methods: Fifty patients have been diagnosed as sickle cell anemia by sickle cell solubility test at Govt. Medical College, Ambikapur, Chhattisgarh, India. All the patients were admitted in the Department of Medicine at Govt. Medical College, Ambikapur, Chhattisgarh, India, from April 1, 2021, to June 1, 2021. Results: The study group (HbSS patients) comprised 22 (42%) males and 28(58%) females. The ages ranged from 1 to 45 years; these 50 patients have been diagnosed as sickle cell anemia by sickle cell solubility test positive at Govt. Medical College, Ambikapur, Chhattisgarh, India. Conclusion: Sickle cell illness can be counted and observed in a variety of ways. Experience includes things such as electrophoresis and hand counting. HemoTypeSC™ is a blood test kit that determines hemoglobin type in whole blood in a short amount of time. At the point of care, this test detects the hemoglobin phenotype HbAA (normal), HbSS and HbSC (SCD), HbCC (hemoglobin C illness), and HbAS and HbAC (carrier or trait). Monoclonal antibodies are highly specific and sensitive to hemoglobin's A, S, and C. The fetal hemoglobin has no effect. There are no liquid buffer components or requirements for refrigeration. In high temperatures, it remains stable and the test takes only 10 min to complete. [ABSTRACT FROM AUTHOR]

Sickle cell disease (SCD) is phenotypically heterogeneous. One major genetic modifying factor is the patient's fetal hemoglobin (HbF) level. The latter is determined by the patient's β-globin gene cluster haplotype and cis- and trans-acting single nucleotide polymorphisms (SNPs) at other distant quantitative trait loci (QTL). The Arab/India haplotype is associated with persistently high HbF levels and also a relatively mild phenotype. This haplotype carries the Xmn1 (C/T) SNP, rs7482144, in the HBG2 locus. The major identified trans-acting QTL contain SNPs residing in the BCL11A on chromosome 2 and the HMIP locus on chromosome 6. These collectively account for 15-30% of HbF expression in different world populations and in patients with SCD or β-thalassemia. Patients with SCD in Kuwait and Eastern Saudi Arabia uniformly carry the Arab/India haplotype, but despite this, the HbF and clinical phenotypes show considerable heterogeneity. Pain episodes and avascular necrosis of the femoral head are particularly common, but severe bacterial infections, stroke, priapism, and leg ulcers are uncommon. Moreover, the HbF modifiers appear to be different; the reported BCL11A and HMIP SNPs appear to play insignificant roles. There are probably novel modifiers to be discovered in this population. This review examines the common clinical phenotypes in Kuwaiti patients with elevated HbF and the available information on HbF modifiers. The response of the patients to hydroxyurea is discussed. The presentation of patients with other sickle compound heterozygotes (Sβthal and HbSD), vis-à-vis their HbF levels, is also addressed critically. [ABSTRACT FROM AUTHOR]

Background: Himachal Pradesh is a hill state in North India in the Western Himalayas. β-thalassemia is a genetic disorder of hemoglobin inherited in an autosomal recessive manner that results in defective globin production leading to the early destruction of red blood cells. β-thalassemia has long been neglected in Himachal Pradesh due to popular belief that it runs along "Lahore-Gujarat-Punjab" belt in India. Therefore, there is no β-thalassemia testing facility currently in the state. Methods: To estimate the prevalence of β-thalassemia carriers, we calculated the sample size based on probability proportional to size self-weighing design. In each of 20 selected colleges, 111 students having an age of 18–25 were tested for high-performance liquid chromatography (HPLC) and complete blood count. Some were further tested for the mutations. We computed sensitivity, specificity, positive predictive value (PPV) and negative predictive value, and receiver operating characteristic curve for mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) red cell parameters. Results: Of the 2220 students, 57 were found to be β-thalassemia carrier by HPLC. The overall prevalence rate was 2.6% which translates to probable 180,000 β-thalassemia carriers in Himachal Pradesh. Six districts bordering highly endemic Punjab had a higher prevalence. Hemoglobin D-Punjab, Heterozygous-Iran Trait, and raised fetal hemoglobin were found. Thalassemia major and sickle cell disease were not found. Anemic status or MCV/MCH parameters were not found to be reliable predictors of thalassemia carrier status among the healthy populations of HP. The predominant mutation found was IVS 1–5 G > C. Conclusion: Popular ongoing strategy for screening with MCV and MCH has low-PPV and can miss upto 37% of true thalassemia carriers. HPLC is better strategy for screening carriers and reduces further spread of thalassemia. [ABSTRACT FROM AUTHOR]

Large deletions in the β-globin gene cluster lead to increased HbF levels by delaying the γ- to β-globin switch process. However, these deletions when inherited as a homozygous condition or when co-inherited with β-thalassemia result in variable clinical phenotypes. Individuals or families with a clinically presenting child, where the parents had HbF levels ≥ 10%, were further screened for the presence of large β-globin cluster deletions. Six deletions in the β-globin gene cluster were screened by GAP-PCR, and the uncharacterized deletions were further analyzed by gene dosage or by multiplex ligation-dependent probe amplification (MLPA). Among 192 individuals suspected for the inheritance of large deletions, 138 were heterozygous for large deletions, 45 were compound heterozygous of a large β-globin cluster deletion and β-thalassemia, and 9 were found to be homozygous for deletions. Among the heterozygotes, the Asian Indian inversion-deletion was found to be the most common deletion (39.9%), followed by the HPFH-3 deletion (30.0%). Other deletions 49.3 kb, δβ-thalassemia (21.2%), and 32.6 kb deletion (4.4%) were also found to be prevalent in our population. Patients compound heterozygous or homozygous for HPFH-3 and 32.6 kb deletions showed a milder clinical presentation, as compared with the patients compound heterozygous or homozygous for the Asian Indian inversion-deletion and 49.3 kb δβ-thalassemia. This comprehensive study highlights the mutation spectrum of large β-globin cluster deletions and the clinical heterogeneity in the patients homozygous or compound heterozygous with β-thalassemia, thus asserting the need for molecular characterization of these deletions. [ABSTRACT FROM AUTHOR]

Introduction: Peak systolic velocity (PSV) of the middle cerebral artery (MCA) shows 100% sensitivity for predicting fetal anemia before the first intrauterine transfusion (IUT). However, its ability to predict subsequent transfusions has remained mostly controversial.Objectives: To assess if there is a need to change the threshold of MCA-PSV from 1.5 to 1.69 multiples of the median (MoM) to predict fetal anemia and the need for subsequent IUT.Methods: This is a retrospective audit, wherein case records of mothers who underwent IUT at the Bangalore Fetal Medicine Centre between April 2008 and May 2017 were reviewed; 86 cases were included, and the data were analyzed using MS Excel. The MCA-PSV and pretransfusion Hb were converted into MoM. 40 fetuses that had more than 1 IUT were included in the analysis. -Results: 31/40 fetuses that had >1 IUT had an MCA-PSV >1.5 MoM, of which 29 were anemic according to the post-IUT Hb MoM. 20/29 (69%) had an MCA-PSV >1.69, whereas 9/29 (31%) had an MCA-PSV between 1.5 and 1.69 MoM. Our study shows that changing the MCA-PSV threshold from 1.5 to 1.69 MoM will reduce the detection of fetal anemia and hence the need for repeat IUT by 31%.Conclusions: Increasing the fetal MCA-PSV threshold from 1.5 to 1.69 will miss out one-third of the fetuses that will require a 2nd, 3rd, or 4th IUT. This is more relevant in geographical areas where the parents must travel long distances for IUTs, which are performed in tertiary fetal care centers. [ABSTRACT FROM AUTHOR]

BACKGROUND AND OBJECTIVES: Patients with beta-thalassemia require lifelong blood transfusions, leading to chronic iron overload, which can lead to growth retardation, as well as hinder sexual development during the adolescent period and dysfunction of organs such as heart, pancreas, and endocrine glands. These patients are in need of lifelong transfusion therapy and hence lifelong iron chelation therapy as well. Hence, this study was aimed to assess the effectiveness of deferasirox for iron chelation in pediatric thalassemia cases in a tertiary care hospital of Eastern India. SUBJECTS AND METHODS: This prospective, observational, hospital-based study was conducted from June 2015 to December 2016. Two hundred and fifty patients were assessed for eligibility, of which 174 were included. Effectiveness of deferasirox was observed by measuring serum ferritin levels which were monitored at the end of every 3 months till 1 year. We also evaluated the compliance with deferasirox therapy in the same study cohort. RESULTS: The serum ferritin level reduced significantly at the end of 12 months in comparison to baseline (P = 0.04). There was a mean absolute decrease in serum ferritin only in the dose range of 21-30 mg/kg/day. Approximately 90% of the patients had 100% compliance with deferasirox therapy. CONCLUSIONS: Deferasirox is an effective iron chelator when started at an optimum time and with optimum dose. At least 1 year of deferasirox therapy is needed for a significant lowering of serum ferritin levels of pediatric thalassemia patients on multiple blood transfusions. [ABSTRACT FROM AUTHOR]

Objectives: Sickle cell anemia is the commonest genetic disorder in India, and the frequency of the sickle cell gene is very high in the remote tribal areas where facilities are generally limited. Therefore, a rapid and affordable point-of-care test for sickle cell disease is needed.Methods: The diagnostic accuracy of HemoTypeSC was evaluated against automated high-performance liquid chromatography (HPLC) as the gold standard for its efficacy in a newborn screening program.Results: A total of 1,559 individuals (980 newborns and 579 adults) from four participating centers were analyzed by both methods. HemoTypeSC correctly identified 209 of 211 total hemoglobin (Hb) SS cases, for a 99.1%/99.9% total HbSS sensitivity/specificity. Overall, HemoTypeSC exhibited sensitivity and specificity of 98.1% and 99.1% for all possible phenotypes (HbAA, HbAS, and HbSS) detected. HPLC is relatively expensive and not available in most laboratories in remote tribal areas.Conclusions: We conclude that the rapid, point-of-care testing device HemoTypeSC test is suitable for population and newborn screening for the HbS phenotype. [ABSTRACT FROM AUTHOR]

The master erythroid regulator KLF1 ,plays a pivotal role during erythroid lineage development by regulating the expression of many erythroid genes. Variations in the KLF1 gene are found to be associated with varied erythroid phenotypes. With the aim of determining the role of KLF1 gene variations in HbF induction and their genotype phenotype relationship, in this study, we screened 370 individuals with different hemoglobinopathy condition. Hematological analysis was carried out using automated blood cell counter and Variant II HPLC (Biorad). KLF1 gene mutations were screened using automated DNA sequencing. Expression analysis was carried out using q-RT PCR of KLF1 , BCL11A and γ-globin after selective enrichment and culturing of CD 34 +ve cells into an erythroid lineage. Over all 14 KLF1 gene variations were identified, of which six variants were novel. The incidence of KLF1 gene mutations was found to be 8.1%. It was seen that KLF1 mutations contributed in borderline HbA 2 levels as 7.6% of our borderline HbA 2 cases showed presence of KLF1 variations. It also contributed in induction of HbF levels under stress erythropoietic conditions. Gene expression studies revealed inverse correlation of KLF1 , BCL11A (reduced) with γ-globin gene expression (increased) in patients showing KLF1 gene mutations, thus indicating the role of KLF1 gene in regulating the γ-globin gene expression. The identification of genomic variants of the KLF1 may help in determining the functionally active domain of this protein and will facilitate in understanding the wide spectrum of phenotypes generated by these variants. • KLF1 plays a pivotal role by regulating the expression of varied erythroid genes. • Here we documented the role of KLF1 in hemoglobin switching. • Induction of γ-globin expression through down regulation of mutant KLF1 and BCL11A gene was observed. • Incidence of KLF1 gene mutations were found to be 8.1%. • Six novel variants were identified. [ABSTRACT FROM AUTHOR]

Vascular complications of sickle cell anemia (SCA) are influenced by many factors. Elevated plasma homocysteine (Hcy) is supposed to be an independent risk factor and is either genetic or nutritional origin. The present study evaluated the plasma Hcy level, MTHFR C677T gene polymorphism, effect of folic acid (FA) supplementation' and hemato-biochemical parameters in SCA and their effect on the vaso-occlusive crisis (VOC) in SCA patients of an Asian-Indian haplotype population. One hundred twenty cases of SCA (HbSS) and 50 controls with normal hemoglobin(HbAA) were studied. It was found that the plasma Hcy level is significantly higher (p < 0.0001) in patients with SCA (22.41 ± 7.8 μmol/L) compared to controls (13.2 ± 4.4 μmol/L). Moreover, patients without FA supplementation had a significantly (p < 0.001) higher Hcy level (27 ± 7 μmol/L) compared to those with supplementation (17.75 ± 5.7 μmol/L). Turkey-Kramer multiple comparison tests show that there is a significant difference (p < 0.05) in HbF percent, hemoglobin (Hb), platelet count, serum bilirubin (direct:Bil-D and total:Bil-T), aspartate transaminase (AST), lactate dehydrogenase (LDH), and plasma Hcy levels between mild and severe VOC. Between moderate VOC and severe VOC, there was a significant difference (p < 0.05) in HbF%, Bil-D, AST, Hcy. Pearson correlation revealed that plasma Hcy had a significantly (p < 0.05) positive correlation with AST, serum bilirubin (indirect and total), LDH, jaundice, stroke, VOC per year, and hospitalization per year whereas it was inversely correlated with HbF percentage, Hb level, and FA treatment. In the study population, increased plasma Hcy level, hemolysis, and platelet activation were found to influence VOC in SCA. [ABSTRACT FROM AUTHOR]

Vaso-occlusive crisis (VOC) occurs more frequently during stress in sickle cell disease patients. Epinephrine released during stress increases adhesion of sickled red blood cells (RBCs) to endothelium and to leukocytes, a process mediated through erythrocyte cyclic adenosine monophosphate (cAMP). Increased adhesion of sickled RBCs retards blood flow through the capillaries and promotes vaso-occlusion. Therefore, we examined the association of RBC-cAMP levels with frequency of acute pain episodes in sickle cell disease subjects. Using a case control study design, we measured RBC-cAMP levels, fetal hemoglobin (Hb F), α-thalassemia (α-thal) and other hematological parameters at baseline (sham treated) and after stimulation with epinephrine. The cases consisted of sickle cell disease subjects with three or more acute pain episodes in the last 12 months, and those without a single acute pain episode in the last 12 months were considered as controls. Significantly higher cAMP values were found in cases than the controls, in both sham treated (p < 0.001) and epinephrine treated RBCs (p < 0.001) by Wilcoxon Rank Sum test. However, significant association of cAMP values was observed both on univariate [odds ratio (OR): 4.8, 95% confidence interval (95% CI): 1.51-15.19, p < 0.008) and multivariate logistic regression analyses only in epinephrine treated (OR: 5.07, 95% CI: 1.53-16.82, p < 0.008) but not in sham-treated RBCs. In the covariates, Hb F consistently showed protective effects in univariate as well as in multivariate analyses. Frequent acute pain episodes are associated with higher cAMP levels than those with less frequent pain episodes, only after stimulation with epinephrine but not with baseline level. [ABSTRACT FROM AUTHOR]

Background: In current scenario, burden of diabetes is increasing in India with time and along with its complications that are microvascular and macrovascular, one of which is stroke. There is an increased risk of stroke and its severity when a patient has diabetes with poor glycemic control. There are very few studies which compare the severity of stroke in patients of diabetes with good and poor glycemic control with non diabetic. Therefore, this study was conducted to assess the impact of diabetes on the pattern and severity of stroke (ischemic) with the help of glycosylated haemoglobin (HbA1C), which is easily accessible and affordable, so that various medical therapies should be implemented to prevent it. Objectives: To know the glycemic status by estimating the HbA1c at the time of admission among all patients with acute ischemic stroke. To study the correlation of HbA1C on the severity of stroke at admission in diabetic patients. To compare the poor and good glycemic status patients among the diabetics with non-diabetic patients in acute ischemic stroke. Material and Method: This is a Case control observational study in which the total sample size was 200, out of which 100 patients were cases (diabetic) and controls (non diabetic) respectively. Results: In this study, cases were sub-categorized into good glycemic control- GGC (HbA1C < 7%) and poor glycemic control- PGC (HbA1C > 7%). Diabetes was more prevalent in male (58.5%) compared to female (41.5%) in which poor glycemic control was more common in males (55.8%) compared to females (44.2%). According to the TOAST Classification and NIHSS scoring systems, GGC has 16.7% of large artery occlusion and PGC has 36.5 percent of large artery occlusion. In the non diabetic group, 1% has large artery occlusion. In NIHSS score, 2% of patients have major stroke in the GGC group, 11.5% have severe stroke in the PGC group, and in the non diabetic group, 0.5% has severe stroke. Conclusion: Sunanda et al. (2016) discovered that glycemic control has a significant association with the severity and outcome of diabetic ischemic stroke patients using HbA1c estimation. The severity of ischemic stroke patients during hospital stay was examined in this study with non-diabetics as a control, resulting in a study with a stronger association. Among the diabetic stroke patients, the severity of deranged glycemic status was found to have an influence on the stroke severity. Estimation of HbA1c levels at the time of admission might be a predictor of the severity of neurological impairment and functional outcome in patients with acute ischemic stroke. [ABSTRACT FROM AUTHOR]

• We report a case of reticular dysgenesis from North India with hemophagocytic lymphohistiocytosis. • Reticular dysgenesis not suspected due to unfamiliarity and failure to test for sensoryl deafness. • A stop-gain AK2 gene variant was detected on targeted NGS and confirmed by Sanger sequencing. We report a rare case of agranulocytosis and lymphopenia complicated with hemophagocytic lymphohistiocytosis. Diagnosis of reticular dysgenesis was made by detection of a pathogenic stop gain variant in the AK2 gene on targeted next generation sequencing and confirmed by Sanger sequencing. Parents were found to be carriers for this variant. Bone marrow aspirate and biopsy was also performed with a clinical diagnosis of severe combined immunodeficiency with HLH. However, no hemophagocytosis was noted in the bone marrow aspirate or trephine biopsy. Instead, it showed aggregates of large histiocyte-like cells, scattered erythroid precursors and megakaryocytes. These cells were confused to be some form of storage cells, but did not resemble storage cells seen in Gaucher's disease or Niemann Pick disease. Myeloid precursors were very few in number. Reticular dysgenesis was not suspected during admission due to a lack of awareness of this entity. Testing for sensorineural deafness in neonates with severe agranulocytosis and lymphopenia would facilitate an early diagnosis of reticular dysgenesis. To the best of our knowledge, hemophagocytic lymphohistiocytosis has not been previously reported in association with reticular dysgenesis. [ABSTRACT FROM AUTHOR]

Although rapid technical advances have taken place in the diagnosis of beta-thalassemia, still the hematological factors were found to be suitable screening test in areas like Indian subcontinent where a high prevalence of beta-thalassemia trait was observed. Among various thalassemias reported in Asian Indians, beta-thalassemia account for about 80% and is responsible for very high infantile mortality. Despite this, little is known about the hematological status of beta-thalassemias among this ethnic group which is associated with more than five different predominant beta-globin mutation with high frequency and variable number of rare ones. The present study is the first report of hematological status of beta-thalassemia among this ethnic group particularly from Tamil Nadu, Southern India, who are still practising high degree of consanguinity. In the present study, a total number of 364 beta-thalassemics were investigated. This includes 84 cases of homozygous beta-thalassemias and the remaining 280 were heterozygotes. The hematological factors such as red cell indices, hemoglobin F and hemoglobin A2 were assessed. The results revealed a wide spectrum of hematological variables ranging from severe form as that of Mediterranean thalassemias to very mild form of anemia as that of African Negro population. [ABSTRACT FROM AUTHOR]