Hb Malm? [beta-97(FG-4)His-->Gln] leading to polycythemia in a Dutch family

We have examined six individuals from a two-generation Dutch family for a suspected hemoglobin (Hb) abnormality. The propositus presented with polycythemia and complained of persistent weakness, headache, and epistaxis. All family members initially showed a normal Hb-electrophoretic pattern, but on isoelectric focusing, three of them displayed a fast-moving band associated with high packed red cell volumes (PCV) and increased red blood cell count. The Hb mutant was analyzed at the DNA level by specific gene fragment amplification (PCR), followed by direct DNA sequencing, and the mutation was confirmed by restriction enzyme analysis. We found a C-->G transversion (CAC-->CAG) at codon 97 of the beta-chain, which corresponded to the His-->Gln amino acid substitution previously described as Hb Malm?. We report here the clinical history of the patient, the effects of phlebotomy treatment, and the effect of subnormal iron conditions on the erythropoietic recovery after phlebotomy. The mechanism responsible for the induction of the higher oxygen affinity is discussed, as are some aspects concerning the occurrence, pathology treatment, and the genetic risk of Hb variants with high O2 affinity.     

Malaria chemosuppression in pregnancy. V. Placenta malarial changes among three different prophylaxis groups

The effect of malaria chemoprophylaxis during pregnancy on placenta malarial changes (PMCs) was investigated in 170 tissue sections. Women of 63 sections received daily proguanil (PROG), 61 once weekly chloroquine (CQ) and 46 the two drug combination (CQ+PROG). All were residents of a malaria hyperendemic area in Muheza District, Tanzania. Supervised prophylaxis started early in pregnancy till delivery. Parasitaemias and clinical episodes were detected early and radically treated. Overall, PMCs were mostly infrequent and light viz: fibrinous deposits (98%), fibrinoid necrosis (60%), leucocytic infiltrations (59%), macrophage containing pigment (16%), and malaria parasites (8%). The type, prevalence, and severity of the PMCs in the three prophylaxis groups were comparable. This was despite the fact that PROG and CQ+PROG were prophylactically more efficacious than CQ and despite the expectation that the prevalence and severity of the PMCs would be high in the CQ group. Prompt diagnosis and effective treatment of parasitaemias in this group contributed to the low prevalence and less severity. It is concluded that effective malaria chemoprophylaxis or prompt diagnosis and effective treatment of malaria parasitaemias have significant impact on the prevalence of PMCs. Due to various operational constraints in most developing countries, chemoprophylaxis remains the only feasible broad option for malaria control in pregnancy.