Interaction of five globin gene abnormalities in a Cambodian family.

Journal article

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.

Authors: Simpkins, H; Hill, A; Derry, S; Clegg, J; Weatherall, D

• Publication status: Published
• Journal: British journal of haematology
• Volume: 63
• Issue: 1
• Pages: 7-15
• Publication date: 1986-05-01
• DOI: 10.1111/j.1365-2141.1986.tb07489.x
• EISSN: 1365-2141
• ISSN: 0007-1048
• Language: English
• Keywords: Hemoglobins, Abnormal; Genotype; Adult; Anemia, Hypochromic; Male; Hemoglobin H; Child; Child, Preschool; Humans; Female; Adolescent; Cambodia; Infant; DNA; Globins; Phenotype; Thalassemia; Hemoglobin E