Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis

Blood. 2014 Mar 20;123(12):1963-5. doi: 10.1182/blood-2014-01-548149.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis, Renal Tubular / genetics*
  • Acidosis, Renal Tubular / therapy
  • Anion Exchange Protein 1, Erythrocyte / genetics
  • Blood Transfusion, Intrauterine
  • Child, Preschool
  • Elliptocytosis, Hereditary / blood
  • Elliptocytosis, Hereditary / genetics*
  • Elliptocytosis, Hereditary / therapy
  • Female
  • Heterozygote
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Pregnancy
  • Sequence Deletion
  • alpha-Globins / genetics
  • beta-Globins / genetics

Substances

  • Anion Exchange Protein 1, Erythrocyte
  • SLC4A1 protein, human
  • alpha-Globins
  • beta-Globins

Supplementary concepts

  • Renal tubular acidosis, distal, autosomal recessive