Abstract
Data on a 24-year-old Chinese male with Hb Q-Thailand-Hb H disease are presented. The hemoglobin variant was characterized by fast microprocedures, mainly by reverse-phase high-performance liquid chromatography. Gene mapping analyses identified the alpha-thalassemia-2, which is associated with the alpha-Q chain, as caused by a 4.2-kb deletion involving the alpha 2 globin gene, while the alpha-thalassemia-1 anomaly was the common Southeast Asian type in which part of the psi zeta, the psi alpha, and the alpha 2 and alpha 1 globin genes are deleted.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Amino Acids / analysis
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Bone Marrow Cells
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China / ethnology
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Chromatography, High Pressure Liquid
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Chromosome Aberrations / blood*
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Chromosome Disorders
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Chromosome Mapping
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Genetic Variation
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Hemoglobins / analysis
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Hemoglobins, Abnormal / analysis
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Hemoglobins, Abnormal / genetics*
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Humans
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Male
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Polymorphism, Restriction Fragment Length
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Switzerland
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Thalassemia / blood*
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Thalassemia / genetics
Substances
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Amino Acids
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Hemoglobins
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Hemoglobins, Abnormal
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hemoglobin Q Thailand