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Blood Cells Mol Dis ; 85: 102462, 2020 11.
Article in English | MEDLINE | ID: mdl-32623341

ABSTRACT

Dizygotic twin males, born at 34 weeks gestation, had prolonged jaundice, microcytic, hypochromic anemia, FABarts hemoglobin, elevated end-tidal CO, and blood films consistent with hereditary pyropoikilocytosis. DNA sequencing revealed both had a heterozygous alpha spectrin (SPTA1) mutation (c.460_462dup) inherited from their asymptomatic mother, plus a 3-base pair duplication in alpha globin (HBA2) (c.364_366dupGTG) inherited from their asymptomatic father.


Subject(s)
Anemia, Hemolytic/complications , Anemia, Hypochromic/complications , Elliptocytosis, Hereditary/complications , Jaundice/complications , Anemia, Hemolytic/blood , Anemia, Hemolytic/genetics , Anemia, Hypochromic/blood , Anemia, Hypochromic/genetics , Elliptocytosis, Hereditary/blood , Elliptocytosis, Hereditary/genetics , Humans , Infant, Newborn , Jaundice/blood , Jaundice/genetics , Male , Point Mutation , Spectrin/genetics , Twins, Dizygotic/genetics
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