Double heterozygosis for hemoglobin C-beta thalassemia: description of a Spanish family. Hemoglobin C-beta thalassemia in a Spanish family.

A spanish family is described with two abnormal genes: 1) hemoglobin C in heterozygosis with normal hemoglobin, introduced by the subject's mother, and 2) heterozygotic betathalassemia for which the father is a carrier. In the subject and his sister, both abnormal genes coincide with the presence of hemoglobin C and hemoglobin F, simulating homozygosis for hemoglobin C. The clinical condition shows medium intensity chronic hemolysis. In the subject's brother, mother and grandmother, simple heterozygosis of hemoglobins A-C is seen, with no apparent clinical manifestations. The father shows subjaundice with some acute hemolytic episodes. Hypotheses are discussed which might explain the presence of these hemoglobins in Spain.

[Alakaline phosphatase levels in down's syndrome (author's transl)]. / Niveles de fosfatasa alcalina sérica en el síndrome de Down

Levels of serum alkaline phosphatase activity were determined in a sample of 110 individuals affected by Down's syndrome, and in a sample of 299 healthy persons, males and females. The age of both populations was from 6 to 28. They were located in Madrid, but hailing from several Spanish provinces. Levels are higher for all age groups than those in the control population. Differences between both populations are statistically significant in the following age groups: from 6 to 8, 11 to 13 and 14 to 16. Other studies on alkaline phosphatase in various tissues were examined and the possible significance of this finding is discussed.