Colin G Miller

Hemoglobin O Arab in four negro families and its interaction with Hemoglobin S and Hemoglobin C

Abstract Hemoglobin O Arab (α2β2 121 Glu → Lys) was found in 25 members of four apparently unrelated Negro families in the West Indian island of Jamaica. In each family the propositus had Hb SO disease. Two cases had been mistakenly diagnosed as Hb SC disease. Two persons heterozygous for both Hb C and Hb O Arab were found in these families, and Hb O Arab β thalassemia in one other relative. The clinical course and symptomatology of Hb SO disease is comparable to that in Hb SD (α2β2 121 Glu → GluNH2) disease and more severe than Hb SC disease. In vitro mixtures of Hb O Arab and Hb S change from a liquid to a gel phase at total hemoglobin concentrations weaker than those required to gel pure Hb S, whereas mixtures of Hb S with Hb A or Hb C require a stronger total hemoglobin concentration before gelling will occur. Oxygen dissociation studies on red cells containing Hb SO show a lowered oxygen affinity comparable to that found in homozygous sickle-cell anemia and outside the range for subjects with sickle-...

Anomalies of development in a girl with unusual sex chromosomal mosaicism.

Morphological abnormalities of the X chromosome are well documented and have been extensively reviewed and discussed by Ferguson-Smith (1965). They include isochromosome of the long arm, deletions of the long and short arms, ring chromosomes, and chromosomal fragments. Other types of abnormality are rare. Engel and Forbes (1965) described a chromatin negative girl (Patient No. 27) with a mosaicism of an XO line and an X large metacentric stem, which could have been an isochromosome. Mann, Valdmanis, Capps, and Puite (1965) described a girl with primary amenorrhoea who had an abnormality deduced to be due to a reciprocal translocation between an X and a B autosome, and Wie Lie, Coenegracht, and Stalder (1964) studied a mentally retarded girl with Turners syndrome and a large metacentric chromosome replacing an X-6-12 chromosome in all cells. We here present a patient with some features of gonadal dysgenesis who was found to have mosaicism with an XO line and a 46 line, with a morphological abnormality, probably of an X chromosome. In addition, there were unusual radiological and electroencephalographic features.

Pathology of congenital rubella in Jamaica.

The clinical, virological, and haematological features of the congenital rubella syndrome have been well documented in the recent American paediatric literature, as a result of the epidemic which occurred in 1964. However, apart from isolated case reports (Lambert, Stern, and Wellsteed, 1965; Stern and Williams, 1966; Menser, Dorman, Reye, and Reid, 1966) pathological data have been limited to descriptions of certain organs or tissues as part of larger series of clinical studies (Plotkin, Oski, Hartnett, Hervada, Friedman and Gowing, 1965; Korones, Ainger, Gilles, Roane, Sever, and Fuste, 1965; Cooper, Green, Krugman, Giles, and Mirick, 1965), or to the pathology of abortuses (Tondury and Smith, 1966). In the early months of 1965, an epidemic of rubella occurred in Jamaica, possibly as a sequel to that in the United States. As a result of this, many babies born in the University College Hospital of the West Indies (U.C.H.) showed features of congenital rubella. The clinical findings in 20 of these infants have been described in a previous publication (Miller and Thorburn, 1966). In addition to the babies born in U.C.H., many other affected babies have been seen in the out-patient department, and it has been estimated that there are approximately 300 affected babies in the island. It is the purpose of this paper to describe and discuss the pathological findings in 8 infants who came to necropsy.

Vitamin-D deficiency rickets in Jamaican children

Vitamin-D deficiency is not as rare in Jamaica as previously believed. 9 children with vitamin-D deficiency rickets have been seen at the University Hospital of the West Indies during the past 5 years. All were over 3 years of age at time of presentation. Both dietary deficiency of vitamin D and lack of exposure to sunlight seem to be important causes. Children living in rural Jamaica seem to be more susceptible to the disease than those living in a city, due perhaps to more prolonged breast feeding and lack of fortified milk feeds on weaning.