Anemia in pregnancy.

In evaluating pregnant women with anemia, it is essential to do a complete history and physical examination, as well as a complete blood count with indices and a blood smear examination. Based on these findings, other tests such as ferritin and serum or red cell folate may be ordered. Because of the normal physiologic changes in pregnancy that affect the hematocrit, indices, and some other parameters, diagnosing true anemia, as well as the etiology of anemia, is challenging. Because of the increased nutritional requirements of the mother and fetus, the most common anemias are iron deficiency anemia and folate deficiency megaloblastic anemia. These anemias are more common in women who have inadequate diets and who are not receiving prenatal iron and folate supplements. Other less common causes of acquired anemia in pregnancy are aplastic anemia and hemolytic anemia associated with preeclampsia. In addition, congenital anemias such as sickle cell disease can impact on the health of the mother and fetus. Obviously, severe anemia has adverse effects on the mother and the fetus. There is also evidence that less severe anemia is associated with poor pregnancy outcome. The cause of this association has yet to be elucidated. It is important, however, to diagnose and treat anemia in pregnancy to provide for optimal health of the mother and infant.     

Trisomy 19 in a patient with myelodysplastic syndrome and thrombocytosis

A patient with refractory anemia with excess blasts, ringed sideroblasts, and thrombocytosis was found on cytogenetic analysis to have trisomy 19 as the sole abnormality. Although trisomy 19 in combination with other chromosomal anomalies has been encountered in association with a variety of hematologic malignancies, many solid tumors, and the myelodysplastic syndrome, its occurrence as the only cytogenetic aberration is rare and has not been reported in association with thrombocythemia.     

Hemochromatosis heterozygotes may have significant iron overload when they also have hereditary spherocytosis

A family is described in which four of six siblings have both hereditary spherocytosis and evidence of abnormal iron metabolism. Three of the four have significant iron overload. HLA typing, which permits the detection of the gene for hemochromatosis, indicates that all family members with hereditary spherocytosis who have abnormal iron metabolism or significant iron overload are heterozygous for the hemochromatosis gene. Family members having hereditary spherocytosis but not the gene for hemochromatosis have normal iron studies as does a family member heterozygous for hemochromatosis but no hereditary spherocytosis. Based on the findings in this kindred, it appears that the combination of chronic hemolysis and the gene for hemochromatosis results in increased iron absorption that may lead to significant iron overload.