Abstract
A Chinese family with concurrent hereditary spherocytosis (HS) and haemoglobin (Hb) Q-Thailand is described. The Hb Q-Thailand mutation was found on the remaining alpha1 globin gene on a chromosome 16 containing the (-alpha 4.2) deletion. Active haemolysis in members of this family is segregated with the HS phenotype, and the Hb Q-Thailand in the heterozygous state does not seem to show any modulating effect on HS.
MeSH terms
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Adult
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Anemia, Hemolytic, Congenital / etiology
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Anemia, Hemolytic, Congenital / genetics
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China
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Family Health
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Female
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Genotype
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Hemoglobins, Abnormal / genetics*
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Heterozygote
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Humans
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Nuclear Family
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Osmotic Fragility / genetics
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Pedigree
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Phenotype
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Spherocytosis, Hereditary / blood
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Spherocytosis, Hereditary / complications
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Spherocytosis, Hereditary / genetics*
Substances
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Hemoglobins, Abnormal
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hemoglobin Q Thailand