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PMID: 1269174 Published · ppublish English Case Reports Journal Article

Analbuminemia in an American Indian girl.

Clinical genetics ·Vol. 9 ·No. 5 ·1976-05-00 ·Pages 513-26

Boman H, Hermodson M, Hammond CA, Motulsky AG

Abstract

Analbuminemia was fortuitously detected in a nonedematous 12-year-old American Indian girl with atopic dermatitis, mild bronchial asthma, a mild seizure disorder, and hyperlipoproteinemia with a corneal arcus. Immunologic methods revealed trace amounts (17 mg/100 ml) of apparently normal serum albumin. The patient's parents were remotely related. The pedigree and clinical findings were compatible with autosomal recessive transmission of analbuminemia. Heterozygotes had subnormal levels of serum albumin. The Gc-locus is closely linked to the structural albumin locus. Gc-protein levels were normal in the patient and together with normal chromosomal banding studies make it unlikely that a chromosomal deletion caused analbuminemia. Gc-types in the family were compatible with, but did not prove, linkage of analbuminemia to the Gc-locus. These findings suggest a "thalassemia"-like mutation for this disorder.

MeSH Terms
Adult Aged Blood Proteins/metabolism Child Female Genetic Linkage Humans Indians, North American Male Middle Aged Molecular Biology Pedigree Serum Albumin/deficiency
Chemicals
Blood Proteins Serum Albumin
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Boman H
Hermodson M
Hammond C A
Motulsky A G
Article Info
Journal
Clinical genetics
Abbr.
Clin Genet
ISSN
0009-9163
Published
1976-05-00
Pages
513-26
Language
English
Region
Denmark
NLM ID
0253664
Subset
IM
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