The role of BCL11A and HMIP-2 polymorphisms on endogenous and hydroxyurea induced levels of fetal hemoglobin in sickle cell anemia patients from southern Brazil.

High levels of fetal hemoglobin (HbF) reduce sickle cell anemia (SCA) morbidity and mortality. HbF levels vary considerably and there is a strong genetic component that influences HbF production. Genetic polymorphisms at three quantitative trait loci (QTL): Xmn1-HBG2, HMIP-2 and BCL11A, have been shown to influence HbF levels and disease severity in SCA. Hydroxyurea (HU) is a drug that increases HbF. We investigated the influence of single nucleotide polymorphisms (SNPs) at the Xmn1-HBG2 (rs7482144); BCL11A (rs1427407, rs4671393 and rs11886868); and HMIP-2 (rs9399137 and rs9402686) loci on baseline and HU-induced HbF levels in 111 HbSS patients. We found that both BCL11A and HMIP-2 were associated with increased endogenous levels of HbF. Interestingly, we also found that BCL11A was associated with higher induction of HbF with HU. This effect was independent of the effect of BCL11A on baseline HbF levels. Additional studies will be needed to validate these findings and explain the ample inter-individual variations in HbF levels at baseline and HU-induced in patients with SCA.

Prophylactic Iron Supplementation in Pregnancy: A Controversial Issue.

In our world today, iron deficiency (ID) is the most frequent nutritional deficiency and it is being considered as an epidemic public health crisis. Women of reproductive age and infants are at particular risk of ID, especially in underdeveloped countries. During pregnancy, iron deficiency anemia is a specific risk factor associated with negative maternal and perinatal outcomes. Many countries have iron supplementation (IS) programs-as recommended by the World Health Organization-during pregnancy; however, IS clinical benefits and risks are unclear. This review aims to discuss the threats and benefits of routine IS on maternal and infant outcomes.

Eosinophilic acute appendicitis caused by Strongyloides stercoralis and Enterobius vermicularis in an HIV-positive patient.

A 29 year old female HIV-positive patient presented in emergency with acute right lower quadrant abdominal pain, fever, tenderness and positive Blumberg sign. Laboratorial tests revealed eosinophilia, anaemia and leukocytosis. She underwent exploratory laparotomy followed by appendectomy. The pathological analysis of the appendix revealed acute appendicitis, accentuated eosinophilia and infestation by Strongyloides stercoralis and Enterobius vermicularis. She did well after surgery and adequate treatment. To the authors' knowledge, this is the first case of eosinophilic acute appendicitis caused by these two parasitic worms reported in the medical literature.