Mutant Fetal Hemoglobin Causing Cyanosis in a Newborn
Keyword(s):
A Site
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A well but cyanotic newborn was found to have a mutant γ-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 γ-chain synthesis was replaced by β-chain synthesis. A sibling born 20 months later was also cyanotic and the same mutant hemoglobin was found.
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1994 ◽
Vol 269
(6)
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pp. 4450-4457
1990 ◽
Vol 265
(36)
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pp. 22520-22525
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Keyword(s):
1993 ◽
Vol 30
(18)
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pp. 1671-1677
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