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.

Hyperbilirubinemia

An increased amount of bilirubin in the blood.


Total: 2

                       


(per page)
PMID (PMCID)
31145309
 FEMALE Young Adult
A novel mutation in SPTA1 identified by whole exome sequencing in a Chinese family for hereditary elliptocytosis presenting with hyperbilirubinemia: A case report.
Xi Y, Wang L, Zhang P, Jia M, Li Z.
Medicine (Baltimore). 2019;98(22):e15800.
A novel mutation in SPTA1 identified by whole exome sequencing in a Chinese family for hereditary elliptocytosis presenting with hyperbilirubinemia: A case report.
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.
We cared for a neonate who had problematic hyperbilirubinemia born into a family where nine first-degree relatives had hereditary elliptocytosis (HE).