Jamaican Family Research Articles

Albers-Schoenberg's disease. A changing concept.

1. A type of bony sclerosis is described, occurring in nine members of a Jamaican family and resembling the more benign form of Albers-Schönberg's disease. The parents were consanguineous. Three of the patients developed facial palsy at the same age, and one had bilateral optic atrophy and proptosis. 2. Although radiological changes occurred of all grades of severity, certain features often described in this condition were lacking. In one child the onset of radiological changes was observed at the age of eleven years. 3. Serum studies showed increased alkaline phosphatase activity. 4. These features are discussed in the light of present-day knowledge and theory of the pathology of Albers-Schönberg's disease.

An Unusual Type of Hemoglobinopathy Resembling Sickle Cell—Thalassemia Disease in a Jamaican Family

Abstract Three generations of a Jamaican family of African extraction are described, in several members of which an abnormal gene is carried. This gene produces high levels of fetal hemoglobin unassociated with the usual stigmata of thalassemia. It is found in all three generations of the family associated with hemoglobin A only and is also found in at least two members of the family interacting with hemoglobin S. In the latter combination little or no disability results. The mode of inheritance of this abnormal gene is discussed, and reasons are put forward for a possible protective effect of high fetal hemoglobin levels due to inhibition of sickling. The findings in the cord blood of the youngest child, including an unusually high percentage of sickling, are discussed, together with follow-up studies to the age of 25 weeks.