Red cell membrane protein deficiencies in Mexican patients with hereditary spherocytosis.
Twenty-seven families and four individual patients with hereditary spherocytosis (HS) from the northwestern region of Mexico were studied. An autosomal dominant inheritance pattern was identified in 59% of 22 families. Densitometric analysis of erythrocyte membrane proteins revealed individual protein deficiencies in 39% of the patients studied, in whom the principal altered proteins were the alpha spectrins (13%), band 3 protein (10%), ankyrin (6%), 4.2 protein (6%), and the beta spectrins (3%). A predominant deficiency of spectrins has also been observed in other Latin American and Mediterranean countries. However, it is well known that deficiencies in these proteins are heterogeneous across different ethnic groups. A combined protein deficiency was observed in 52% of patients, most frequently involving the spectrins, band 3 protein, 4.2 protein, and 4.1 protein. In three subjects, no abnormalities were detected (10%). We conclude that, despite the observed heterogeneity, the principal affected proteins are essentially similar to those observed in other ethnic groups.
Sánchez-López
J Yoaly
JY
División de Genética, Centro de Investigación Biomédica de Occidente, CMNO, IMSS, Sierra Mojada No. 800, Col. Independencia, CP 44340, Guadalajara, México.
Camacho
Ana L
AL
Magaña
Maria Teresa
MT
Ibarra
Bertha
B
Perea
F Javier
FJ
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004910:Erythrocyte Membrane / Q000378:metabolism*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000097:blood* / Q000172:deficiency* / Q000235:genetics; D017058:Mexican Americans; D010375:Pedigree; D013103:Spherocytosis, Hereditary / Q000097:blood* / Q000235:genetics
D008565:Membrane Proteins