Molecular matching for patients with haematological diseases expressing altered RHD-RHCE genotypes.

BACKGROUND AND OBJECTIVES: The high homology and the inverted orientation of RHD and RHCE may give rise to non-functional and aberrant RH alleles. RH genotyping is used to screen RH matched donors to African descent patients. This study aimed to define a strategy for testing RHD and RHCE variants in blood donors to provide compatible units for transfusion of patients with haematological diseases. MATERIALS AND METHODS: Samples from 132 patients [101 Sickle cell disease (SCD), 14 myelodysplastic syndrome (MDS), 17 acute myelogenous leukaemia (AML)] and 198 Brazilian donors were studied. Major blood group alleles, RHD, RHCE alleles and RHD zygosity were determined by the blood-MLPA assay. Sequencing was performed to determine RHD and RHCE variant subtypes. A match was an RH genotype that did not encode Rh antigens absent in the patient, along with matching for ABO, MNS, KEL, FY, JK and DI antigens. RESULTS: Overall, 7·6% of blood donors and 17.4% of patients presented RH genotypes that predict expression of partial Rh antigens or lack of high prevalence Rh antigens. From 23 patients with clinically relevant RH genotypes, 15 had available matched donors. CONCLUSION: We report the presence of clinically relevant RH genotypes in SCD and in non-SCD patients. In our admixed population, many patients carry variant RHCE alleles in heterozygosity with normal RHCE alleles. Thus, our results suggest that donors could be selected based on the normal RH allele.

Contraceptive practices in women with sickle-cell disease.

This was a cross-sectional study of sexually active women with sickle-cell disease (SCD) managed at São Paulo Federal University during a one-year period. A total of 54 women were included. Mean age was 32.0 (11.2, standard deviation) years and almost 95% were black or of mixed racial ancestry. Almost 80% reported a history of multiple blood transfusions, 50% had kidney disease and 17% had a history of thrombosis. Over 80% of them had used some form of contraception, mostly combined hormonal contraceptive (52%) or progestin-only contraceptives (46%). Although most women had multiple comorbidities which would contraindicate the use of combined hormonal contraceptives, this was the most popular method used by them. We did not identify an association between the use of combined hormonal contraceptives and major complications. Larger, prospective studies are needed to evaluate the use and the effects of contraceptive methods in women with SCD.

Modelo experimental de instalação e recuperação de anemia ferropriva / Experimental installing and recuperating modelling of iron deficiency anemia

A anemia carencial ferropriva é um importante problema de saúde pública, acometendo, em nosso meio principalmente, crianças abaixo dos 5 anos de idade. Essa afecção tem como causa prevalente a dieta deficiente em ferro. Com o objetivo de estabelecer um modelo experimental de instalação e recuperação de anemia ferropriva, de fácil execução e útil para estudos das suas conseqüências a curto e longo prazos, foram utilizados 12 ratos Wistar-EPM machos, aos 21 dias de vida, com peso médio de 41,5 g e hematócrito (Ht) >=35 por cento. Os animais receberam ração purificada sem adição de ferro e água desionizada ad libitum para a instalação da anemia (Ht < 35 por cento). Para a recuperação, os animais receberam água desionizada com 6 mg Fe/l. Foram pesados a cada 3 dias, o sangue coletado por punção capilar aos 21, 35, 48, 61 e 74 dias de vida e o Ht determinado pela técnica do microhematócrito. Observou-se que até 35 dias de vida houve ganho ponderal médio significativo (72,4 g) apesar do Ht médio de 21,2 por cento. Foram necessários de 26 a 39 dias para a recuperação da anemia. Conclui-se que este modelo experimental é eficiente na promoção de anemia ferropriva; permite a sua recuperação e a quantidade de sangue necessária para o experimento é compatível com o porte do animal.