Hereditary elliptocytosis

Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

Jaundice

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.


Total: 2

                       


(per page)
PMID (PMCID)
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.
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.
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.