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Haemoglobin C/α Thalassaemia: Haematological and Biosynthetic Studies
Author(s) -
Steinberg Martin H.
Publication year - 1975
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1975.tb00549.x
Subject(s) - microcytosis , proband , heterozygote advantage , hemoglobinopathy , globin , alpha (finance) , genetics , biology , sickle cell trait , compound heterozygosity , gene , medicine , hemolytic anemia , anemia , disease , mutation , immunology , genotype , iron deficiency , construct validity , nursing , patient satisfaction
S ummary . A family with genes for haemoglobin C (Hb C) and a thalassaemia was studied. The mother had Hb‐C trait. The father also had Hb‐C trait but in addition displayed microcytosis, elevated Hb‐F levels and a concentration of Hb‐C less than usual for heterozygotes. The proband was homozygous for Hb‐C but had Hb‐F levels far exceeding those present in Hb‐C disease. Biosynthetic studies of globin synthesis in both father and daughter showed a deficit of α chains relative to non‐α chains, confirming the presence of α thalassaemia. The coexistence of α thalassaemia influences the level of mutant haemoglobin in haemoglobinopathies in which Hb C is present, in a fashion similar to that observed in sickle‐cell trait.