Idiopathic hemochromatosis: a study in a large Puerto Rican family

We studied 13 first-degree relatives in a large family with an index case of idiopathic hemochromatosis to detect the relatives with evidence of iron overloading. Serum iron, total iron binding capacity (TIBC), and serum ferritin levels were measured in all family members. We also performed HLA typing to identify the relatives who are homozygous with the proband and genetically predisposed to develop the disease. The family was composed of the parents and 12 siblings including the index case. The mean age of the siblings was 25 years. None presented with evidence of iron overload by the iron biochemical tests. HLA typing demonstrated six homozygous siblings with the proband. In separate analysis these siblings did not present abnormalities in any of the iron biochemical tests. These homozygous relatives were followed for one year after initial evaluation and none presented abnormalities in the iron studies during this period. These results are contradictory to other previous studies done in families with idiopathic hemochromatosis. The most feasible explanations for these findings are the young age of these siblings and the predominance of females among them. We consider that these homozygous relatives must be followed for their life-times with iron studies to detect a possible increase in iron stores as expected in later ages

The HLA antigen frequency in the Puerto Rican population

Los estudios de histocompatibilidad han demostrado ser críticos en los campos de trasplante de órganos y pruebas de filiación, y como una valiosa aram investigacional en antropología. EL Laboratório de Histocompatibilidad de Puerto Rico ha operado contínuamente por los últimos 10 años, llevando a cabo casi 3,000 determinaciones de histocompatibilidad para trasplante de riñón, trasplante de médula ósea, pruebas de filiación, y estudios antropológicos. Para el análisis que presentamos en esta publicación, hemos recompilado los datos de 1,880 haplotipos en 940 casos de paternidad. La frecuencia haplotípica verdadeira se derivó directamente de los expedientes de paternidad. La frecuencia de cada antígeno fue entonces determinada para cada una de las especificacidades de HLA-A y B, incluyendo las designaciones "w". De estas determinaciones se construyó una segunda tabla con las frecuencias por antígeno. Este informe debe ser de valor para aquellos investigadores que estudian al sujeto puertorriqueño en áreas tales como trasplante de órganos, antropología, y enfermedades con influencia genética