Atypical HbH disease in a Surinamese patient resulting from a combination of the -SEA and -alpha(3 center dot 7) deletions with HbC heterozygosity

作者：Giordano PC^*; Harteveld CL; Michiels JJ; Terpstra W; Batelaan D; vanDelft P; Plug RJ; vanderWielen MJR; Losekoot M; Bernini LF

来源：British Journal of Haematology, 1997, 96(4): 801-805.

DOI：10.1046/j.1365-2141.1997.d01-2093.x

• haemoglobin
• thalassaemia
• HbH disease
• haemoglobinopathy
• HbC

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.

• 出版日期1997-3