Interaction of five globin gene abnormalities in a Cambodian family.
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.
D000293:Adolescent; D000328:Adult; D000747:Anemia, Hypochromic / Q000235:genetics; D002160:Cambodia / Q000208:ethnology; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D005260:Female; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006446:Hemoglobin E / Q000235:genetics*; D006447:Hemoglobin H / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D013789:Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D005914:Globins; D004247:DNA; D006446:Hemoglobin E; D006447:Hemoglobin H; C030448:hemoglobin Bart's; C035541:Hemoglobin Constant Spring