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.

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Narrow down the case reports

Total: 51 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
50 (20.3%)	6727059	A case of hereditary elliptocytosis associated with constitutional indocyanine green excretory defect. Taketazu F, Sanada I, Ngamatsu N, Mukai R, Suetomo Y, Toyoda N, Takada M, Hida K, Kubota K, Maezawa M, et al.. Jpn J Med. 1984;23(2):139-43. [ Show abstract ] [ Hide abstract ]
		Cirrhosis


		Adult Elliptocytosis, Hereditary Females Homo sapiens Liver Metabolic Clearance Rate

Phenotype(s) retrieved from Orphanet

Total: 20

HPO ID	Term	Frequency
HP:0001877	Abnormal erythrocyte morphology	Obligate (100%)
HP:0004445	Elliptocytosis	Frequent (79-30%)
HP:0005502	Increased red cell osmotic fragility	Frequent (79-30%)
HP:0000952	Jaundice	Occasional (29-5%)
HP:0001744	Splenomegaly	Occasional (29-5%)
HP:0001878	Hemolytic anemia	Occasional (29-5%)
HP:0001923	Reticulocytosis	Occasional (29-5%)
HP:0002904	Hyperbilirubinemia	Occasional (29-5%)
HP:0003265	Neonatal hyperbilirubinemia	Occasional (29-5%)
HP:0004446	Stomatocytosis	Occasional (29-5%)
HP:0004447	Poikilocytosis	Occasional (29-5%)
HP:0004804	Congenital hemolytic anemia	Occasional (29-5%)
HP:0006579	Prolonged neonatal jaundice	Occasional (29-5%)
HP:0001081	Cholelithiasis	Very rare (4-1%)
HP:0001789	Hydrops fetalis	Very rare (4-1%)
HP:0001945	Fever	Very rare (4-1%)
HP:0002007	Frontal bossing	Very rare (4-1%)
HP:0002027	Abdominal pain	Very rare (4-1%)
HP:0008897	Postnatal growth retardation	Very rare (4-1%)
HP:0025143	Chills	Very rare (4-1%)

Phenotype(s) retrieved from case reports

Total: 15

HPO ID	Term	# of case reports
HP:0004839	Pyropoikilocytosis	11
HP:0004445	Elliptocytosis	5
HP:0000952	Jaundice	2
HP:0001903	Anemia	2
HP:0002904	Hyperbilirubinemia	2
HP:0004447	Poikilocytosis	2
HP:0000979	Purpura	1
HP:0001878	Hemolytic anemia	1
HP:0001935	Microcytic anemia	1
HP:0001945	Fever	1
HP:0002018	Nausea	1
HP:0002027	Abdominal pain	1
HP:0004804	Congenital hemolytic anemia	1
HP:0012115	Hepatitis	1
HP:0200119	Acute hepatitis	1

Causative gene(s) retrieved from Orphanet

Total: 4

Gene Symbol	Gene Name	Entrez Gene ID
SPTA1	spectrin alpha, erythrocytic 1	6708
SPTB	spectrin beta, erythrocytic	6710
EPB41	erythrocyte membrane protein band 4.1	2035
GYPC	glycophorin C (Gerbich blood group)	2995