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.

Elliptocytosis

The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.


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PMID (PMCID)
7819065
 MIXED_SAMPLE
A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28.
Randon J, Boulanger L, Marechal J, Garbarz M, Vallier A, Ribeiro L, Tamagnini G, Dhermy D, Delaunay J.
Br J Haematol. 1994;88(3):534-40.
When it occurs in trans to an alpha-allele responsible for hereditary elliptocytosis (alpha HE allele; alpha HE/alpha LELY diplotype), allele alpha LELY enhances the severity of elliptocytosis.
1635163
 FEMALE Infant
[Abnormalities of beta spectrin with hereditary elliptocytosis in mother and child].
Iyori H, Kobayashi N, Fujisawa K, Akatsuka J, Nakamura H, Mishima K, Kanzaki A, Wada H, Ata K, Yamada O, et al..
Rinsho Ketsueki. 1992;33(2):167-72.
Both peripheral blood smears of patient and her mother showed typical elliptocytosis and they were diagnosed as hereditary elliptocytosis.
1912588
 OTHER
Molecular analysis of hereditary elliptocytosis with reduced protein 4.1 in the French Northern Alps.
Feddal S, Brunet G, Roda L, Chabanis S, Alloisio N, Morle L, Ducluzeau MT, Marechal J, Robert JM, Benz EJ Jr, et al..
Blood. 1991;78(8):2113-9.
4.1(-) hereditary elliptocytosis (HE) is a variety of elliptocytosis resulting from the reduction (heterozygosity) or the absence (homozygosity) of protein 4.1.
6849840
 MIXED_SAMPLE Infant
Defective spectrin dimer-dimer association in a family with transfusion dependent homozygous hereditary elliptocytosis.
Evans JP, Baines AJ, Hann IM, Al-Hakim I, Knowles SM, Hoffbrand AV.
Br J Haematol. 1983;54(2):163-72.
The present results are the first demonstration of a defect of spectrin dimer-dimer association in homozygous elliptocytosis and provide strong support for the concept that this defect is the primary cause of the red cell abnormality in at least some families of hereditary elliptocytosis.
826082
 MIXED_SAMPLE Child
beta+-Thalassaemia, Haemoglobin S and Hereditary elliptocytosis in a Zairian Family. Ischaemic costal necroses in a child with sickle cell beta+-Thalassaemia.
Ros G, Seynhaeve V, Fiasse L.
Acta Haematol. 1976;56(4):241-52.
Besides the thalassaemia trait and the sickle cell trait, hereditary elliptocytosis was also segregating in this family; double heterozygotes for Hb S and elliptocytosis or for beta-thalassaemia and elliptocytosis did not show any definite sign of genetic or clinical interaction between both traits.
826082
 MIXED_SAMPLE Child
beta+-Thalassaemia, Haemoglobin S and Hereditary elliptocytosis in a Zairian Family. Ischaemic costal necroses in a child with sickle cell beta+-Thalassaemia.
Ros G, Seynhaeve V, Fiasse L.
Acta Haematol. 1976;56(4):241-52.
Besides the thalassaemia trait and the sickle cell trait, hereditary elliptocytosis was also segregating in this family; double heterozygotes for Hb S and elliptocytosis or for beta-thalassaemia and elliptocytosis did not show any definite sign of genetic or clinical interaction between both traits.