Dizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis

被引：3

作者：

Bahr, Timothy M. ^{[1
]}

Lozano-Chinga, Michell ^{[2
]}

Agarwal, Archana M. ^{[3
,4
]}

Meznarich, Jessica A. ^{[2
]}

Gerday, Erick ^{[5
]}

Smoot, Jennifer L. ^{[5
]}

Taylor, Ann ^{[6
]}

Christensen, Robert D. ^{[1
,2
]}

机构：

[1] Univ Utah Hlth, Dept Pediat, Div Neonatol, Salt Lake City, UT USA

[2] Univ Utah Hlth, Dept Pediat, Div Hematol Oncol, Salt Lake City, UT USA

[3] Univ Utah Hlth, Dept Pediat, Div Hematopathol, Salt Lake City, UT USA

[4] ARUP Labs, Salt Lake City, UT USA

[5] Utah Valley Hosp, Div Neonatol, Dept Pediat, Provo, UT USA

[6] Utah Valley Hosp, Dept Pathol, Provo, UT USA

来源：

BLOOD CELLS MOLECULES AND DISEASES | 2020年 / 85卷

关键词：

Pyropoikilocytosis; Hemolysis; Hyperbilirubinemia; Hereditary elliptocytosis; Alpha thalassemia; HEREDITARY ELLIPTOCYTOSIS; MOLECULAR-BASIS; SPECTRIN; HYPERBILIRUBINEMIA; INDICATOR; MUTATION;

D O I：

10.1016/j.bcmd.2020.102462

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：5

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