| Autor: |
Giordano PC; MGC-Department of Human Genetics, Leiden University, The Netherlands., Harteveld CL, Michiels JJ, Terpstra W, Batelaan D, van Delft P, Plug RJ, van der Wielen MJ, Losekoot M, Bernini LF |
| Jazyk: |
angličtina |
| Zdroj: |
British journal of haematology [Br J Haematol] 1997 Mar; Vol. 96 (4), pp. 801-5. |
| DOI: |
10.1046/j.1365-2141.1997.d01-2093.x |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
Plný text