Total: 2 |
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PMID (PMCID) | ||
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24193021 |
MIXED_SAMPLE | Infant |
Variations in both alpha-spectrin (SPTA1) and beta-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis. | ||
Christensen RD, Nussenzveig RH, Reading NS, Agarwal AM, Prchal JT, Yaish HM. Neonatology. 2014;105(1):1-4. |
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Variations in both 945-spectrin (SPTA1) and 946-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis. | ||
22796621 |
FEMALE | Adult |
[A case of hereditary pyropoikilocytosis with mild expression and delayed onset]. | ||
Bock I, Perrin J, Braun F, Garcon L, Lesesve JF. Ann Biol Clin (Paris). 2012;70(4):483-8. |
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HPP is considered as a severe form of hereditary elliptocytosis characterized by jaundice and a severe haemolytic anaemia which usually appears during the neonatal period and the childhood. |