With the Technical Assistance of George Cummings, Marze L. Duersl1 Donald R. Maim, Katherine Swisher and Patricia Vanbeilinghen S INCE the first description of hemoglobin H,1 many reports have appeared indicating a wide racial and geographical distribution of this hemoglobinopathy. We reported a shortened erythrocyte survival in a case, which was attributed to the property of hemoglobin H to de...

hemoglobinopathies are the most common single gene disorders worldwide with a considerable frequency in certain area particularly mediterranean and middle eastern countries. hemoglobinopathies include structural variants of hemoglobin (hb s, hb c, hbe,…) and thalassaemias which are inherited defects in the globin chains synthesis. the present study was conducted to determine the prevalence of h...

Hemoglobin H (HbH) disease is the severe nonfatal form of α-thalassemia syndrome. It is usually caused by molecular defects of 3 of 4 α-globin genes (--/-α) which cause α-globin expression to be decreased. HbH disease is rare in Japan. Here, we report on a 6-year-old girl with HbH disease who had profound hypochromatic and microcytic anemia. Analysis of the α-globin genes of the patient's famil...

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References 1. Weatherall DJ. The thalassemias. In: Stamatoyannopoulos G, Majerus PW, Perlmutter RM, Varmus H, eds. The molecular basis of blood diseases, Vol. 3. Philadelphia: WB Saunders, 2001:183–226. 2. Chui DH, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood 2003;101:791–800. 3. Lemmens-Zygulska M, Eigel A, Helbig B, Sanguansermsri T, Horst J, Flatz G. Pr...

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...

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...

HbH and HbH-constant spring (HbH-CS) are the most common forms of α-thalassemia detected in the Thai population. The accumulation of excess β globin chains in these diseases results in increased red cell hemolysis, and patients with HbH-CS normally have a more severe clinical presentation than patients with HbH disease. This study aimed to detect alterations in the expression of plasma proteins...

The purpose of this study was to research the problem of hemoglobin H (HbH) disease, to reveal the distribution patterns among different health centers, and to emphasize the importance of this disease for Turkey. A total of 273 patients were included from 8 hemoglobinopathy centers. The Antakya Hemoglobinopathy Center reported 232 patients and the remaining 7 centers reported 41 patients. PubMe...