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Hemoglobin E diseases: Hematological, analytical, and biosynthetic studies in homozygotes and double heterozygotes for α‐thalassemia
Author(s) -
Wong S. C.,
Ali M. A. M.
Publication year - 1982
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830130104
Subject(s) - thalassemia , heterozygote advantage , medicine , hemoglobinopathy , hemoglobin e , hemoglobin , beta thalassemia , hemolytic anemia , immunology , biology , genetics , genotype , gene
Two families with Hb E diseases are described. In the Laotian family S, three homozygous Hb E were found. In the Vietnamese family H, double heterozygous Hb E‐α‐thalassemia‐2 and Hb E‐Hb H diseases were found. Anemia or hemolysis was absent in Hb E carriers, unless complicated by iron deficiency, the presence of severe α‐thalassemia gene (Hb H disease), or oxidative drug (paraaminosalicylic acid). Moreover, iron deficiency or concurrent α‐thalassemia genes resulted in a decreased amount of Hb E in its heterozygous carriers. Mild microcytosis and hypochromia were observed in Hb E heterozygotes, whereas the microcytosis and hypochromia were more pronounced in Hb E homozygotes. Globin chain synthesis studies yielded unbalanced α/non‐α ratios in both heterozygotes and homozygotes (average ratios were 1.13 and 1.56, respectively). The unbalanced biosynthetic ratios with microcytosis and hypochromia in Hb E carriers represented a β‐thalassemia phenotype, which could be a result of reduced synthesis of β E ‐globin mRNA, as suggested by recent hybridization studies.