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Hemoglobin D-Punjab is a common hemoglobin variant in India but very rare in Morocco. Often, its presence has minimal or no clinical impact. Its heterozygous association with β-thalassemia is exceptional. The purpose of the study is to describe the epidemiological, diagnostic and prophylactic aspects of hemoglobinosis D-Punjab from a family case study., Material and Methods: Case study of hemoglobinosis D-Punjab in a Moroccan family, diagnosed at the Laboratory of Biochemistry-Toxicology of the Mohammed V Military Teaching Hospital. The biological study was based on iron and hemolysis checkups, hemogram and study of hemoglobin (electrophoresis in alkaline and acid medium, high performance liquid chromatography). The index patient also benefited from sequencing by molecular biology., Results: The index patient was heterozygous D-Punjab/β 0 -thalassemia, confirmed by molecular biology. Two of her sisters had the same hemoglobin profile. At electrophoresis, all three had hemoglobin D-Punjab higher than 90%, hemoglobin A less than 1% and hemoglobin A 2 higher than 6%. The results of the three hemograms showed similar abnormalities (pseudo-polycythemia, hypochromia, microcytosis, anisopoikilocytosis). Six other members of the family had a thalassemic trait and another three had heterozygous hemoglobinosis D-Punjab., Conclusion: Hemoglobin D-Punjab remains extremely rare in Morocco and very poorly documented in the literature. The number of reported cases is expected to raise due to increasing migration. Biologist advisory services require a precise diagnosis in order to give correct genetic counseling.

Hyperthyroidism may be associated with several haematological disorders, including an increase in haemoglobin A 2 level. We report the case of haemoglobin study in a 29-years old man of Mediterranean origin presenting microcytosis. Results showed a slight increase in haemoglobin A 2 level, suggestive of a beta-thalassemia trait, which was finally related to the existence of a recently diagnosed Grave's disease.

Measurement of serum ferritin (SF) is currently the laboratory test recommended for diagnosing iron deficiency. In the absence of an associated disease, a low SF value is an early and highly specific indicator of iron deficiency. The WHO criteria proposed to define depleted storage iron are 12μg/L for children under 5 years and 15μg/L for those over 5 years. A higher threshold of 30μg/L is used in the presence of infection or inflammation. Iron deficiency anemia, with typical low mean corpuscular volume and mean corpuscular hemoglobin, is only present at the end stage of iron deficiency. Other diagnostic tests for iron deficiency including iron parameters (low serum iron, increased total iron-binding capacity, low transferrin saturation) and erythrocyte traits (low mean corpuscular volume, increased zinc protoporphyrin) provide little additional diagnostic value over SF. In children, serum soluble transferrin receptor (sTfR) has been reported to be a sensitive indicator of iron deficiency and is relatively unaffected by inflammation. On the other hand, sTfR is directly related to extent of erythroid activity and not commonly used in clinical practice. In population surveys, approaches based on combinations of markers have been explored to improve the specificity and sensitivity of diagnostic. In addition to Hb value determination, a combination of parameters (among transferrin saturation, zinc protoporphyrin, mean corpuscular volume or serum ferritin) was generally used to assess iron deficiency. More recently sTfR/ ferritin index were evaluated, sTfR in conjunction with SF allowing to better distinguishing iron deficiency from inflammatory anemia. Also, hepcidin measurements appeared an interesting marker for diagnosing iron deficiency and identifying individuals in need of iron supplementation in populations where inflammatory or infectious diseases are frequently encountered. Reticulocyte Hb content (CHr) determination is an early parameter of iron deficiency erythropoiesis. CHr can be measured with several automated hematology analyzers and so, used for individual's iron status assessment. In addition to Hb concentration determination, individual's iron status is commonly assessed in the pediatric clinical practice by the SF measurement accompanied by the determination of C-reactive protein for detection of a simultaneous acute infection and/or inflammation., (© 2017 Elsevier Masson SAS. Tous droits réservés.)

Aim of the Study: To study the clinical and biological profile of β-thalassemic patients in our region, reflecting the quality of their care., Patients and Methods: A retrospective study (2010-2011) on 26 β-thalassemic patients followed in the pediatrics service at CHU Farhat Hached Sousse, Tunisia. Epidemiological, clinical and biological data were collected from medical records and transfusion files of patients. The transfusion protocol adopted was to maintain a hemoglobin level>10g/dL by regular transfusions every 3-4 weeks. Iron chelation therapy, in order to maintain serum ferritin<1500ng/mL, was introduced when serum ferritin exceeded 800-1000ng/mL., Results: The mean age of patients at diagnosis was 15 months. The clinical impact of anemia had resulted in failure to thrive in 54% of patients and facial dysmorphism in 23%. The average transfusion requirement was estimated at 311.02mL/kg/year with 6 cases of hyperconsumption. The immunohaematological monitoring showed the appearance of anti-RBC alloimmunization in one patient and 4 cases of autoimmunization. Poor adherence of chelation therapy was 62% and causing 5 cases of cardiac complications, 4 cases of liver injury and 14 cases of endocrine complications., Conclusion: Improving the therapeutic care of β-thalassemic children requires better monitoring of transfusion recovery and improved adherence to chelation therapy., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)

We describe the case of a Sickle Cell Trait associated with alpha and beta(o) thalassemia at an young man without clinical abnormality. Capillary electrophoresis showed S haemoglobin at 67%, F haemoglobin at 29%, A2 haemoglobin at 4% and an absence of A haemoglobin. Accurate diagnosis was found by techniques of molecular biology.

Background: Pseudoxanthoma elasticum (PXE) is normally associated with mutations in the ABCC6 gene. A PXE phenotype without mutations in ABCC6 has been described in Greek and Italian patients presenting with beta thalassemia. We attempted to determine the incidence of beta thalassemia in a cohort of French patients with PXE., Patients and Methods: Fifty patients with PXE were included in the study. Laboratory examinations comprised hemoglobin electrophoresis, ABCC6 gene study and in some studies: mutation analysis, beta-globin gene., Results: No cases of beta thalassemia were diagnosed in this cohort of French patients with PXE. However, 20% of the latter exhibited a significant but isolated (i.e. without microcytic anemia) increase of hemoglobin A2 (HbA2). Statistical comparisons showed no difference in terms of geographical origin or severity of PXE between patients with high levels of HbA2 and those with normal levels of HbA2 other than the extent of cutaneous involvement. Study of the beta-globin gene displayed mutations only in the two patients with the highest recorded levels of HbA2. ABCC6 + beta-globin digenism was ruled out of the pathogenesis of PXE., Discussion: The PXE phenotype seen in some patients with beta thalassemia appears to be associated with epigenetic modification of ABCC6 transcription and depends specifically on the beta globin locus. Isolated increase in HbA2 is probably a laboratory marker for PXE. Here again, a functional epigenetic reaction between ABCC6 and the beta-globin locus was suspected. However, these reciprocal interactions are clearly unequal since the change in ABCC6 transcription occurring during the course of beta thalassaemia is responsible for a PXE phenotype while increased HbA2 during the course of PXE has no clinical consequences.

We report a case of pulmonary hypertension (PH) in a 35-year old patient with beta-thalassemia major; he had commenced blood transfusions after the age of 4 years and had been splenectomised at the age of 6 years. PH clinical presentation was not uncommon. Hemodynamic study revealed precapillary PH with high cardiac output; vasodilators agents led to significant pulmonary responsiveness. In beta-thalassemia, whereas congestive heart failure is common and due to cardiac hemosiderin deposition, PH appears to be non rare but its etiopathogenic mechanism remain unclear and probably non univoqual. Hypoxemia as well as hemodynamic changes related to chronic anemia including increased pulmonary flow might play an important role. Management should include blood transfusions to correct anemia, the indication and the choice of vasodilator agents need to be evaluated.

Pregnancy in women with major sickle cell syndromes is a high risk maternofetal situation. This descriptive study presents the features and the clinical course of 68 pregnancies in sickle cell women who were delivered in Guadeloupe from January 1(st) 1993 to December 31(st) 1997. Specific complications were observed in all hemoglobin types, but with a severer course in SS women. Painful vaso-occlusive crises were the main causes of hospitalisation (88% of SS pregnancies and 27% of SC pregnancies) associated most often with worsening anemia and / or infection. Acute chest syndrome was observed in all genotypes at any time throughout pregnancy and during the post partum period. One death occurred (a 16 years old SBeta(+)thal woman). Fetal mortality and morbidity were also high, intrauterine growth retardation and fetal death being the most frequent fetal complications. The rates of prematurity (21%) and caesarean section (48%) were higher than in the whole population. Three (3) neonatal deaths occurred. A multidisciplinary and specific approach, vigilance of health care providers and patient compliance are required to manage efficiently pregnancy, delivery and post partum in sickle cell women.

Eleven cases of simultaneous HbC hemoglobinopathy and beta-thalassemia were detected during a study of 11,200 subjects at high risk for inherited hemoglobin anomalies. In seven cases, main clinical manifestations were anemia and enlargement of the spleen, whereas the four other patients were apparently free of symptoms and were diagnosed during routine tests in family members of affected patients. Microcytosis and hypochromia were found in every case. Most of the patients were from the North-Western part of Tunisia. Blood transfusions were required in only one patient, who was an infant with HbC/beta + thalassemia.