Thirty-five males with severe (Class 1) G6PD deficiency (c.637G>T) in a North American family of European ancestry.
Blood Cells Mol Dis
; 92: 102625, 2021 12.
Article
en En
| MEDLINE
| ID: mdl-34773909
ABSTRACT
In North America, jaundiced neonates are not usually tested for G6PD deficiency if the family is of European ancestry. However, we describe such a family where ≥35 males have had severe (Class I) G6PD deficiency. Many of the jaundiced neonates did not have this diagnosis considered, at least three of whom developed bilirubin neurotoxicity. Over seven generations 35 affected males were identified. Three developed signs of kernicterus spectrum disorder; three had exchange transfusions for hyperbilirubinemia; and nine received one or more blood transfusions during childhood.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Polimorfismo de Nucleótido Simple
/
Glucosafosfato Deshidrogenasa
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Deficiencia de Glucosafosfato Deshidrogenasa
Límite:
Female
/
Humans
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Male
/
Newborn
País/Región como asunto:
America do norte
Idioma:
En
Revista:
Blood Cells Mol Dis
Asunto de la revista:
HEMATOLOGIA
Año:
2021
Tipo del documento:
Article