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Members of a Cambodian family with an undiagnosed hypochromic, microcytic anaemia were found by haemoglobin and DNA analysis to have five interacting globin gene abnormalities. One child has Hb E and typical Hb H disease, while his mother has the form of Hb H disease associated with Hb Constant Spring interacting with Hb E. Quantitation of Hbs E and A2 by globin chain separation and triton/urea gel electrophoresis support the concept that Hb H/Constant Spring disease is a more severe form of alpha thalassaemia than Hb H disease. This family illustrates how the remarkably high prevalence of globin gene abnormalities in Southeast Asians can give rise to a series of atypical thalassaemic phenotypes, and how they can be defined by direct globin gene analysis.

Type

Journal article

Journal

Br J Haematol

Publication Date

05/1986

Volume

63

Pages

7 - 15

Keywords

Adolescent, Adult, Anemia, Hypochromic, Cambodia, Child, Child, Preschool, DNA, Female, Genotype, Globins, Hemoglobin E, Hemoglobin H, Hemoglobins, Abnormal, Humans, Infant, Male, Phenotype, Thalassemia