Inactivation of mouse alpha-globin gene by homologous recombination: mouse model of hemoglobin H disease

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Inactivation of mouse alpha-globin gene by homologous recombination: mouse model of hemoglobin H disease.

We have disrupted the 5' locus of the duplicated adult alpha-globin genes by gene targeting in the mouse embryonic stem cells and created mice with alpha-thalassemia syndromes. The heterozygous knockout mice (.alpha/alpha alpha) are asymptomatic like the silent carriers in humans whereas the homozygous knockout mice (.alpha/.alpha) show hemolytic anemia. Mice with three dysfunctional alpha-glob...

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Inactivation of Mouse & - Globin Gene by Homologous Recombination : Mouse Model of Hemoglobin H Disease

HE HUMAN a-globin locus is located on chromosome 16 and is arranged in the order of ($(aa.’ The common molecular mechanism giving rise to a-thalassemia is caused by deletion of the a-globin structural genes. Because the a-globin genes are duplicated, a-thalassemia could result in three phenotypes. When one of the four a-globin genes in the diploid genome is deleted (-a/aa), a clinically silent ...

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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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Alpha-2-globin gene polyadenylation (AATAAA-->AATAAG) mutation in hemoglobin H disease among Kuwaitis.

OBJECTIVES In the Arabian Gulf region, hemoglobin (Hb) H disease usually results from homozygosity or compound heterozygosity involving the alpha2-globin gene polyadenylation (poly A) signal (AATAAA-->AATAAG) mutation (alpha(T)alpha). Here we document the clinical and hemato logical characteristics of children with Hb H disease being followed in Kuwait. SUBJECTS AND METHODS Twenty-four patien...

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Globin messenger RNA in hemoglobin H disease.

Functional messenger RNA (mRNA) for human globin synthesis was isolated from reticulocytes of each of two patients with hemoglobin H disease. The RNA was tested for its capacity to direct globin synthesis in a messenger RNA-dependent cell-free system derived from Krebs Type II mouse ascites tumor cells. In each case, hemoglobin H disease mRNA directed the synthesis of a great excess of /3-globi...

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ژورنال

عنوان ژورنال: Blood

سال: 1996

ISSN: 0006-4971,1528-0020

DOI: 10.1182/blood.v88.5.1846.1846