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The interaction of α thalassaemia with heterozygous β thalassaemia
Author(s) -
Kanavakis E.,
Wainscoat J. S.,
Wood W. G.,
Weatherall D. J.,
Cao A.,
Furbetta M.,
Galanello R.,
Georgiou D.,
Sophocleous T.
Publication year - 1982
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.1365-2141.1982.tb03916.x
Subject(s) - alpha (finance) , heterozygote advantage , alpha globulin , genotype , beta (programming language) , hemoglobinopathy , globin , genetics , restriction enzyme , biology , gene , microbiology and biotechnology , hemolytic anemia , medicine , immunology , construct validity , nursing , computer science , patient satisfaction , programming language
S ummary . The α globin genotypes of 55 β thalassaemia heterozygotes have been determined by restriction endonuclease analysis to identify those with interacting α thalassaemia genes. A comparison of the haematological and haemoglobin synthesis findings of individuals with normal α genotypes (αα/αα) with those with one (‐ α/αα) or two (‐α/‐α) α genes deleted shows that the latter two groups have more balanced globin chain synthesis ratios, higher haemoglobin levels, and larger, better haemoglobinized red cells. This suggests that the degree of globin chain imbalance is a significant factor in determining the red cell characteristics in heterozygous β thalassaemia. Screening programmes for thalassaemia, based on the detection of low MCVs, could miss cases of the interaction of α and β thalassaemia.