Article
A family affair-Severe fetal and neonatal hemolytic anemia due to novel alpha-spectrin mutations in two siblings.
American journal of medical genetics. Part A - 1 Mar 2020
Donepudi Roopali, Westerfield Lauren, Stonecipher Ashley, A Nassr Ahmed, Cortes Magdalena S, Espinoza Jimmy, Belfort Michael, Shamshirsaz Alireza
Abstract excerpt
Hereditary spherocytosis (HS) is the most common cause of inherited, nonimmune hemolytic anemia. When inherited in an autosomal dominant fashion, the anemia is typically mild. However, severe, transfusion-dependent anemia is seen in autosomal recessive HS, which is often associated with deficient or absent red blood cell membrane protein alpha-spectrin. We report a 26-year-old para one who was referred to our...
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