Thalassemia major phenotype caused by HB Zürich-Albisrieden [α2 59(E8) Gly > Arg (HBA2:C.178G > C)] in a Brazilian child.

Hemoglobin (Hb) Zürich-Albisrieden (ZA) [α2 59(E8) Gly > Arg; HBA2:c.178G > C] is a rare and highly unstable α-chain variant. A few simple and compound heterozygotes (αZA α/αα and -/αZA α, respectively) have been described so far in Switzerland and China. We describe here a case of homozygosity for the Hb ZA mutation (αZA α/αZA α) in a Brazilian child with severe congenital hemolytic anemia and ineffective erythropoiesis.

A randomized trial of amlodipine in addition to standard chelation therapy in patients with thalassemia major.

Cardiovascular disease resulting from iron accumulation is still a major cause of death in patients with thalassemia major (TM). Voltage-gated calcium-channel blockade prevents iron entry into cardiomyocytes and may provide an adjuvant treatment to chelation, reducing myocardial iron uptake. We evaluated whether addition of amlodipine to chelation strategies would reduce myocardial iron overload in TM patients compared with placebo. In a multicenter, double-blind, randomized, placebo-controlled trial, 62 patients were allocated to receive oral amlodipine 5 mg/day or placebo in addition to their current chelation regimen. The main outcome was change in myocardial iron concentration (MIC) determined by magnetic resonance imaging at 12 months, with patients stratified into reduction or prevention groups according to their initial T2* below or above the normal human threshold of 35 ms (MIC, 0.59 mg/g dry weight). At 12 months, patients in the reduction group receiving amlodipine (n = 15) had a significant decrease in MIC compared with patients receiving placebo (n = 15) with a median of -0.26 mg/g (95% confidence interval, -1.02 to -0.01) vs 0.01 mg/g (95% confidence interval, -0.13 to 0.23), P = .02. No significant changes were observed in the prevention group (treatment-effect interaction with P = .005). The same findings were observed in the subgroup of patients with T2* <20 ms. Amlodipine treatment did not cause any serious adverse events. Thus, in TM patients with cardiac siderosis, amlodipine combined with chelation therapy reduced cardiac iron more effectively than chelation therapy alone. Because this conclusion is based on subgroup analyses, it needs to be confirmed in ad hoc clinical trials. This trial was registered at www.clinicaltrials.gov identifier as #NCT01395199.

Aplasia transitória da série vermelha na anemia falciforme / Transient red cell aplasia in sickle cell disease

A doença falciforme, devido à vida média encurtada das hemácias, pelo quadro de hemólise crônica, pode apresentar um quadro clínico grave de anemia quando ocorre supressão da eritropoese devida à infecção pelo Parvovírus humano B19. O quadro clínico apresenta-se com febre, que pode preceder a anemia grave, fraqueza e mal- estar, além de sinais laboratoriais como queda da hemoglobina e reticulocitopenia importante. Diagnóstico laboratorial pode ser por imunofluorescência ou ensaio enzimático. O tratamento é a transfusão de concentrado de hemácias. Pode haver complicações associadas a esta infecção, tais como seqüestro esplênico, seqüestro hepático, síndrome torácica aguda, síndrome nefrótica, meningoencefalite e acidente vascular cerebral. Estratégias de prevenção poderão mudar a morbi-mortalidade desta condição no paciente portador de doença falciforme.

Sickle cell disease due to shortened life span of red blood cells by hemolysis, may present with severe anemia when erythropoietic suppression occurs due to infection by the Human parvovirus B19. The clinical presentation presents with fever, which may precede transient red cell aplasia, as well as laboratorial signs such as a drop in hemoglobin and significant reticulo cytopenia. Laboratorial diagnosis may be by immunofluorescence or enzymatic assays. Treatment is achieved by transfusion of packed red blood cells. Complications may be associated to this infection, including splenic and hepatic sequestration, acute chest syndrome, nephrotic syndrome, meningoencephalitis and strokes. Strategies of prevention are able to change the morbidity and mortality of this condition in sickle cell disease patients.

Crescimento e desenvolvimento nas doenças falciformes / Growth and development in sickle cell disease

Os pacientes portadores de doença falciforme apresentam algumas características quanto ao crescimento e desenvolvimento que devem ser observados no acompanhamento destes pacientes. O crescimento apresenta um retardo que se inicia a partir dos dois anos de idade e que afeta mais o peso do que a altura, sendo que a altura é recuperada na vida adulta, mas o peso permanece menor que na população controle. Quanto à maturação esquelética e sexual também apresentam retardo, atingindo numa fase mais tardia da vida sua maturação esquelética e sexual normal. Vários fatores podem contribuir para este retardo de crescimento e maturação tais como fatores endócrinos, gasto energético e protéico aumentado devido à hemólise crônica e ao trabalho cardiovascular aumentado e deficiências nutricionais. Com a melhora no acompanhamento e no tratamento dos pacientes portadores de doença falciforme é possível ter uma melhora na qualidade de vida, sendo necessário um adequado monitoramento do crescimento e desenvolvimento.

Sickle cell patients present some characteristics in respect to growth and development that must be observed in their accompaniment. Growth is delayed from the age of two years old with the weight being affected more than the height. By adulthood, a normal height is attained but the weight remains lower than in a control population. Skeletal and sexual maturity is also delayed, with normalization occurring at an older age. Some factors contribute to this delay in growth and maturity including endocrine factors, chronic hemolysis and increased cardiovascular function that increases energy and protein expenditure and nutritional deficiencies. With the improvement of the accompaniment and treatment of sickle cell patients, it is possible to improve the quality of life with adequate monitoring of the growth and development.

Transfusion-transmitted infections among multi-transfused patients in Brazil.

BACKGROUND: Transfusion-transmitted infections (TTI) continue to be a problem in many parts of the world, and multi-transfused patients (MTP) are at a particularly increased risk of TTI. OBJECTIVES: to estimate the prevalence of TTI among multi-transfused patients in Brazil, and to understand the epidemiological characteristics of TTI among these patients. STUDY DESIGN: cross-sectional study of 353 MTP, who were interviewed using a structured questionnaire and tested for serological markers of hepatitis C virus (HCV), hepatitis B virus (HBV) and human immunodeficiency virus (HIV) infection. RESULTS: the overall prevalence of HCV, HIV, HBV and co-infection among MTP were 16.7%, 1.7%, 0.8% and 1.7% respectively. A dose-effect relationship could be detected between the number of units transfused and HCV infection. Other non-transfusion related (NTR) risk factors for HCV did not confer any excess risk of HCV infection to MTP. CONCLUSIONS: HCV infection was the most prevalent TTI among MTP, and remains a major health problem for these patients. A dose-effect relationship could be detected between HCV and the number of units transfused. The implementation of measures such as donor education programs, standards for donor selection criteria, and of improved serological screening protocols, paralleled the decline in the prevalence of TTI, specially of HCV, observed in MTP, underscoring the importance of such measures for the reduction of the residual risk of TTI.