Dizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis.
Dizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis.
Blood Cells Mol Dis. 2020 Jun 25;85:102462
Authors: Bahr TM, Lozano-Chinga M, Agarwal AM, Meznarich JA, Gerday E, Smoot JL, Taylor A, Christensen RD
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.
PMID: 32623341 [PubMed - as supplied by publisher]
Source: Blood Cells, Molecules and Diseases - Category: Hematology Authors: Bahr TM, Lozano-Chinga M, Agarwal AM, Meznarich JA, Gerday E, Smoot JL, Taylor A, Christensen RD Tags: Blood Cells Mol Dis Source Type: research