Biomedical subjects

C S Shepherd

Publications and source records attributed to C S Shepherd.

3 recordsLinked to original sources

PubMed1989

Alpha thalassaemia in the Maori: a family study.

Twelve members of a Maori family were investigated for alpha-thalassaemia after a provisional diagnosis of thalassaemia had been made on the basis of chronic hypochromic microcytic red cell indices. Ten family members were shown to have the 3.7 kb deletion form of alpha-thalassaemia; two of these were homozygous for this deletion (-alpha/-alpha); eight had the single deletion (-alpha/alpha alpha). While anaemia was not a significant finding, the degree of hypochromicity and microcytosis correlated well with the alpha globin gene status of individual family members. This and other studies provide evidence that alpha-thalassaemia is a significant contributor to the chronic mild anaemia of the Maori.

Adolescent↗

PubMed1986

Cyclic eosinophilic myositis and hyperimmunoglobulin-E.

A 40-year-old man had regular cyclic episodes of weight gain and eosinophilic myositis associated with hyperimmunoglobulin-E and hypereosinophilia for 9 years. During the episodes his body weight increased up to 10.8%; eosinophil counts reached 41.3 X 10(-9) cells/L; and IgE levels reached 18 000 IU/mL. These values changed regularly in a definite sequence relative to the clinical state. Attempts to document a parasitic cause were unsuccessful, and several courses of anthelmintic therapy were ineffective. An oral dose of prednisone, 10 mg/d, begun in July 1982 resulted in an immediate lessening of the severity of the episodes and a progressive lengthening of the cycle from 35 to 170 days. No further episodes have occurred since March 1984. The patient is fit and well on prednisone therapy, 12.5 mg on alternate days. This apparently unique syndrome has a benign course and is a cyclic disease involving skeletal muscle as the target organ.

Adult↗

PubMed1979

Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system.

Some boys with X-linked chronic granulomatous disease (CGD) have red cells of the rare McLeod phenotype in the Kell blood group system. Only one example of this phenotype has previously been described in a non-CGD subject. We have studied a 10-year-old boy and a maternal brother who do not have CGD and whose red cells are of the McLeod type . The boy presented as a haematological problem with red-cell abnormalities. These were acanthocytosis, anisocytosis and 'tailing' in the osmotic fragility curve, changes now known to occur with the McLeod phenotype. Subsequent studies revealed his rare blood group. A family study has established that an uncle also has acanthocytic red cells and the McLeod phenotype. In addition the boy's sister, mother and maternal grandmother all show red-cell mosaicism with double populations of McLeod acanthocytes and normal red cells of common Kell type. The gene that determines inheritance of the McLeod phenotype is X-linked and the mosaicism present in female carriers is believed to result from X chromosome inactivation by the Lyon effect. The study provides further evidence that the McLeod phenotype arises by inheritance of a variant X-linked modifying gene and not through inheritance of a variant gene at the Kell autosomal locus. It also represents the first occasion that a person of rare blood group has been recognized because of an associated anomaly in red cell morphology.

Acanthocytes↗