Abstract
A well but cyanotic newborn was found to have a mutant gamma-globin chain, leading to a functionally abnormal fetal hemoglobin. A single amino acid substitution was found in a site consistent with known adult M hemoglobins. This patient showed no clinical evidence of cyanosis at 5 weeks of age as gamma-chain synthesis was replaced by beta-chain synthesis. A sibling born 20 months later was also cyanotic and the same mutant hemoglobin was found.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Cyanosis / etiology*
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Cyanosis / genetics
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Female
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Fetal Hemoglobin / analysis*
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Fetal Hemoglobin / genetics*
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Globins / analysis
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Hemoglobin M / analysis*
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Hemoglobin M / genetics
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Hemoglobinopathies / complications*
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Hemoglobins, Abnormal / analysis*
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Humans
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Infant, Newborn
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Methemoglobin / genetics
Substances
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Hemoglobins, Abnormal
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hemoglobin M Akita
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Globins
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Methemoglobin
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Fetal Hemoglobin
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Hemoglobin M
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hemoglobin FM Fort Ripley