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Results for “ELLIPTOCYTOSIS, HEREDITARY”

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At least 73 records · Page 4Linked to original sources
PubMed1994

A deletional frameshift mutation in spectrin beta-gene associated with hereditary elliptocytosis in spectrin Napoli.

We studied a clinically manifest, dominantly transmitted elliptocytosis in an Italian family. We found a new spectrin variant, designated spectrin Napoli. Its beta-chain was truncated in its C-terminal region (apparent MW 216 kD). It displayed a low expression level (15%). There was a 8 nt deletion: CTTTTGAGAAGT-->CTGT (nt 6255-6262), starting after codon 2053. This deletion was followed by a 54 nt (18 amino acids) missense sequence and terminated by the TGA triplet which normally overlaps codons 2074 and 2075 (CTTGAG). The overall length of the mutated beta-chain was comparable to that found in spectrin Nice, spectrin Tokyo and spectrin Tandil, which are other variants with truncated beta-chains; however, a distinct nonsense codon was used in spectrin Napoli.

Adult↗
PubMed1961

Hereditary elliptocytosis in two Maltese families.

The findings in two elliptocytic families are recorded and compared. It is the first report of the anomaly in the Maltese population.A variable degree of clinical and haematological expression among the members of the two families has been observed, ranging from healthy individuals with normal cell morphology to others with only elliptocytic erythrocytes and mild anaemia. Two subjects have been studied during anaemic crises, and are considered to represent the homozygous state.

Anemia↗