Atypical HbH disease in a Surinamese patient resulting from a combination of the −SEA and −α3.7 deletions with HbC heterozygosity

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 (βA +βC/α) indicated an α‐thalassaemia defect with two non‐functional α genes, which did not correlate with the degree of haemolysis and anaemia displayed by the patient. The DNA analysis of the α‐genes clusters revealed a defect combination −SEA/−α3.7. 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 βA and βC homotetramers in HbH/HbC disease are presented.