Molecular basis of hemoglobin-H disease in the Mediterranean population

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Molecular basis of hemoglobin-H disease in the Mediterranean population.

We investigated the molecular basis of hemoglobin-H disease by hybridization and restriction endonuclease mapping of the DNA in the Mediterranean populations. Of the 12 patients studied from Cyprus and Sardinia, 8 had the typical deletion defect with a single remaining alpha-globin gene. The nondeletion type of alpha-thalassemia was found in 3, and a "dysfunctional" gene in one. We conclude tha...

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A molecular basis for hemoglobin-H disease in American blacks.

We have applied gene counting and restriction endonuclease mapping techniques to the study of two American black families in which there were one or more cases of HbH disease. We found deletions of three of the four normal alpha-globin genes in individuals with HbH disease. In two of these individuals, the chromosome containing the single alpha gene could have originated by crossing over betwee...

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Heterozygote Hemoglobin J Iran in Combination with Hemoglobin H Disease

This is a report concerning a concurrent case of hemoglobin J Iran (Hb J Iran) and Hemoglobin H (Hb H) disease in an Iranian woman. The patient was coincidentally found during the course of routine pre-marital genetic counselling for her son. The diagnosis of heterozygote Hb J Iran for her son, ultimately led to the diagnosis of concurrent Hb J Iran and Hb H disease. The hematological examinati...

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Pregnancies Complicated by Hemoglobin H disease

Dear Editor-in-Chief The recent report on “The Adverse Effects of Pregnancies Complicated by Hemoglobin H (HBH) Disease” is very interesting (1). Rabiee et al. reported a pregnant case complicated with HBH disease. Indeed, this problem might not common in the Middle East but it is very common in Southeast Asia. The authors hereby would like to share the experience on this top...

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The Adverse Effects of Pregnancies Complicated by Hemoglobin H (HBH) Disease

Hemoglobin (Hb) H disease is a moderate form of α- thalassemia resulting from various genetic defects. HbH disease is not necessarily a benign disorder as has been generally thought. We present hereby a 25- year-old Iranian pregnant woman whom referred to our hospital for blood transfusion. She exhibited the clinical and hematological manifestation of HbH disease. Her father carries a common α-...

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ژورنال

عنوان ژورنال: Blood

سال: 1979

ISSN: 0006-4971,1528-0020

DOI: 10.1182/blood.v54.6.1434.bloodjournal5461434