Constitutional aplastic anaemia: a family with a new X linked variety of amegakaryocytic thrombocytopenia.

Constitutional aplastic anaemia: a family with a new X linked variety of amegakaryocytic thrombocytopenia.

A family is described in which three male members died in early infancy with severe thrombocytopenia and a fourth in adolescence with aplastic anaemia. One child was investigated in detail and shown to have amegakaryocytic thrombocytopenia, progressing to pancytopenia as a result of bone marrow hypoplasia. His associated congenital abnormalities differed from those described in Fanconi's aplast...

A family study of congenital X linked sideroblastic anaemia.

We report on the cytogenetic findings in a family study of pyridoxine responsive, X linked sideroblastic anaemia. An increase in the number of X chromosomes was observed in a small proportion of metaphases prepared from five female members, but these findings did not strictly correlate with the carrier status of the condition. No consistent cytogenetic abnormality could be identified or associa...

Aplastic anaemia: a review.

Aplastic anaemia is featured by bone marrow hypocellularity and peripheral pancytopenia and is a potentially fatal disease. In recent years, insight in it pathogenesis has increased. It appears that activated autoreactive T lymphocytes induce apoptosis of haematopoietic stem cells resulting in a hypocellular bone marrow. Nowadays, it can be treated by stem cell transplantation or immunosuppress...

Acquired Amegakaryocytic Thrombocytopenia in a Child: A Very Rare Case

Acquired amegakaryocytic thrombocytopenic purpuria (AATP) is an unusual hematologic disorder characterized by thrombocytopenia resulting from an unexplained reduction in the number of bone marrow megakaryocytes in the presence of otherwise normal hematopoiesis in the bone marrow [1]. The exact prevalence of acquired amegakaryocytic thrombocytopenia is unknown due to its very rare incidence. Aro...

Aplastic Anaemia.