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Objective: To report the diagnostic challenges of newborn screening for abnormal haemoglobins. Setting: Cord blood samples from 13 hospitals in southwest Jamaica taken in 2008–2019. Methods: Blood spots, collected from the umbilical cord, were analysed by high pressure liquid chromatography (HPLC) to reveal phenotypes for HbSS and HbCC, but genotype confirmation may require parental studies or gene sequencing. Such cases that were successfully traced were analysed in this follow-up study. Results: HPLC screening of 121,306 samples detected HbAS in 11,846 (9.8%), HbAC in 4508 (3.7%) and other electrophoretic abnormalities in 1090 babies. Among 101 previously unconfirmed cases, 34/90 (38%) with HPLC evidence of a HbSS phenotype had other genotypes, and 7/11 (64%) with a HbCC phenotype had other genotypes. Syndromes from the interaction of β thalassaemia occurred in 112 babies (85 with HbS, 27 with HbC) and of genes for hereditary persistence of fetal haemoglobin (HPFH) in 18 (12 with HbS, 6 with HbC). Variants other than HbS and HbC occurred in 270 babies, 16 in combination with either HbS or HbC, and 254 as traits. Most variants are benign even when inherited with HbS, although HbO Arab, HbD Punjab, or Hb Lepore Washington, which occurred in 6 cases, may cause sickle cell disease. Conclusions: Genes for β thalassaemia and HPFH are common in western Jamaica and when associated with HbS may present diagnostic challenges in newborns, as HbF and HbA2 have not reached diagnostic levels. Family and DNA studies may be necessary for genotype confirmation. [ABSTRACT FROM AUTHOR]

Background: Antenatal screening is vital to identifying couples at risk of having children with a clinically significant haemoglobinopathy. In Australia, immigration is increasing carrier incidence. Methods: A retrospective analysis was performed of full blood count, high-performance liquid chromatography and haemoglobin electrophoresis of women and their partners who underwent antenatal haemoglobinopathy screening over three years at a major NSW laboratory. Genetic testing results were included where available. Results: One thousand six hundred and twenty-eight women and 729 male partners were screened at a median gestation of 14 weeks. 8.2% of women had a clinically significant result, with a median 16-day interval to partner testing. In 35% of couples screened simultaneously, the partner did not require testing. Genetic confirmatory testing was performed in 65% of high risk couples. Conclusion: There was a significant delay to antenatal haemoglobinopathy screening for mothers, limiting time for genetic diagnosis, prenatal diagnosis and management of affected pregnancies. Screening should be performed earlier. Simultaneous couple testing is not cost-effective. [ABSTRACT FROM AUTHOR]

The article present case study of a 20-month-old male with complaints of 1 day of fever in the setting of 2 weeks of upper respiratory symptoms. Further discusses finding of hypoxemia, severe anemia and hemolysis; and Hemoglobin electrophoresis performed by Mayo Clinic later confirmed Hemoglobin M-Hyde Park.

The article presents a case study of a female infant with splenic rupture with multiple etiologies. It notes the complete blood count (CBC) and echocardiogram for atrial septal defect, transferred to the neonatal intensive care unit and low hemoglobin, with the examination of a had ultrasound and abdominal ultrasound.

The article presents a case of 7-month-old white female infant with parental concerns of constipation. The infant was placed on supplemental oxygen by nasal cannula with no improvement. She presented mild anemia and trace carboxyhemoglobin in blood. Bubble-contrast echocardiogram suggested a right-to-left shunt or a patent formane ovale. Chest computed tomography and abdominal ultrasound were normal.

The article offers information on a study related to infants screening for haemoglobinoparhies in Guadeloupe. This study includes molecular analysis for identifying beta-thalassemia mutations to find the uncharacterized screening results. DNA analysis for identiying primary screening for confirmatory diagnosis is mentioned. The study concludes that the universal screening programme has enabled the estimation of the incidence rated for the sickle cell diseases (SCD).

The article discusses a study related to the effectiveness of preventive program for haemoglobinopathies in northeastern Iraq. It states that haemoglobinopathies are inherited disorders related to globin chain synthesis. It informs that this disorder can be quantitative or qualitative, and most of the couples are diagnosed by prematerial screening, and 76 percent of prenatal diagnosis is directed by selective termination of an affected fetus.

Commonly used methods for assay of haemoglobin A(1c) (HbA(1c)) are susceptible to interference from the presence of haemoglobin variants. In many systems, the common variants can be identified but scientists and pathologists must remain vigilant for more subtle variants that may result in spuriously high or low HbA(1c) values. It is clearly important to recognize these events whether HbA(1c) is being used as a monitoring tool or, as is increasingly the case, for diagnostic purposes. We report a patient with a rare haemoglobin variant (Hb Sinai-Baltimore) that resulted in spuriously low values of HbA(1c) when assayed using ion exchange chromatography, and the steps taken to elucidate the nature of the variant. [ABSTRACT FROM AUTHOR]

Objective: England has universal screening for sickle cell disease in newborns, with a policy of reporting beta thalassaemia major where it is detected. We report a case with a high gamma/beta ratio (20.167), but all other tandem mass spectrometry results within expected normal limits. The second test did not support the presumed diagnosis of beta thalassaemia major. As the two results were discrepant, further investigations were carried out. Methods and results: Sanger sequencing identified a novel mutation HBB:c.40 G > A (Hb Tower Hamlets) with concomitant beta plus (severe) thalassaemia due to the HBB:c.92 + 5 G > C mutation. Conclusions: This case highlights considerations for policy makers and implementers of new methods in screening programmes. For the English screening programme, the importance of adherence to the two-part testing strategy for newborn haemoglobinopathy screening is demonstrated. When discrepancies occur in results between the two tests, a thorough investigation is indicated. Communication, training, incident review and oversight are vital aspects of any screening programme. Protocols, risk assessments and guidance require constant monitoring and review to ensure that they remain fit for purpose. When new methods are introduced, stringent application of these principles is recommended. [ABSTRACT FROM AUTHOR]

Several letters to the editor are presented in response to articles published in previous issues including one about the effectiveness of simulation analysis on the relocation and reorganization of a phlebotomy department in a hospital, that was published in the May 2002 issue, another article about interference of rheumatoid factor in cystatin C measurement, and another one about the diagnosis of haemoglobinopathy using HbA1c analysis.

We evaluated the spectrum of hemoglobinopathies among the primitive tribal groups from 4 states in India. A total of 15 200 individuals from 14 primitive tribal groups were studied by automated high-performance liquid chromatography. The hemoglobin S (HbS) allele frequency varied from 0.011 to 0.120 and the β-thalassemia allele frequency from 0.005 to 0.024. It is interesting to note that a very high HbS allele frequency was observed among the Dravidian (0.060-0.120) and Indo-European (0.060-0.076) as compared with Austro-Asiatic (0.011-0.022) speaking tribal groups. Although statistical analysis of the data did not show any ethnic differences within the states, regional differences were observed between the states for both HbS and β-thalassemia traits. HbS was found to be the most common hemoglobinopathy followed by β-thalassemia. A health plan for identifying sickle-cell homozygotes in the neonatal period with proper medical intervention is desirable. [ABSTRACT FROM PUBLISHER]