RESUMEN

The first case of haemoglobin H (HbH) disease in combination with haemoglobin C (HbC) is reported in a man of Surinamese origin. Only haemoglobin A (HbA) and HbC were detected by electrophoresis. The amount of HbC was much less than expected in HbC heterozygotes. The synthesis ratio (beta A+ beta C/alpha) indicated an alpha-thalassaemia defect with two non-functional alpha genes, which did not correlate with the degree of haemolysis and anaemia displayed by the patient. The DNA analysis of the alpha-genes clusters revealed a defect combination -SEA/-alpha 3.7. The haematological data and the physiopathology of this atypical case are compared with the typical HbH disease found in a first cousin of the propositus. Data on the globin chains expression and on the formation of beta A and beta C homotetramers in HbH/HbC disease are presented.

Asunto(s)

Eliminación de Gen , Hemoglobina H/genética , Hemoglobinopatías/genética , Heterocigoto , Adulto , Electroforesis en Gel de Almidón , Enfermedad de la Hemoglobina C/complicaciones , Enfermedad de la Hemoglobina C/genética , Hemoglobinopatías/complicaciones , Humanos , Masculino , Linaje , Talasemia alfa/complicaciones , Talasemia alfa/genética