Sickle cell anemia: delayed diagnosis in Bahia, Brazil--a largely Afro-descendant population.

نویسندگان

  • Angela Maria Dias Zanette
  • Marilda de Sousa Gonçalves
  • Regina Célia Santos Bahia
  • Luciana Vasconcelos Araujo Nogueira
  • Sérgio Marcos Arruda
چکیده

Hemoglobinopathies are the most common genetic disorders in the world and include sickle cell anemia (SCA), which is a public health problem in Brazil. Nevertheless, the disease is highly unknown among health professionals, and delayed diagnosis constitutes an important cause of concern for caretakers of SCA patients. The purpose of this study was to compare the clinical and laboratory history of SCA patients whose diagnosis was established during the first year of life to those of other SCA patients who had delayed SCA diagnosis. Demographic, clinical, and laboratory data were all reviewed from 99 steady-state SCA patients who were followed in a public hematology and hemotherapy clinic in Salvador, Brazil. The patients were aged > or = 12 years and attended the outpatient unit at least once from November 2008 to June 2009. The data were analyzed in 2010. For all patients, the mean age (+/- SD) at diagnosis was 12.7(+/- 12.1) years, ranging from 0 to 47 years. Mean age was higher in patients whose SCA diagnosis was established after age 5 (32.9 +/- 11.9 years, P = .005). Increased unconjugated bilirubin, stroke and splenic sequestration were more prevalent in patients who were diagnosed in the first year of life (P = .043, .024 and .026 respectively). The data suggest that stroke, splenic sequestration and unconjugated bilirubin level may be influenced by age at SCA diagnosis.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, State of Bahia, Brazil

Five restriction site polymorphisms in the β-globin gene cluster (HincII-5' ε, HindIII-(G) γ, HindIII-(A) γ, HincII- ψβ1 and HincII-3' ψβ1) were analyzed in three populations (n = 114) from Reconcavo Baiano, State of Bahia, Brazil. The groups included two urban populations from the towns of Cachoeira and Maragojipe and one rural Afro-descendant population, known as the "quilombo community", fro...

متن کامل

Sickle cell anemia and hearing loss among children and youngsters: literature review.

UNLABELLED Sickle cell anemia is still a significant public health issue in underdeveloped and developing countries. Sickle cell disease is one of the most common inherited diseases in Brazil. It affects mainly the mixed race population. Approximately 1 African-Brazilian child is affected with sickle cell disease for every 37,400 children born alive. Hearing loss has been considered one of the ...

متن کامل

Ava II Site as a Marker of β-Globin Gene Polymorphism, among Normal and Sickle Cell Patients in Iran

The restriction enzyme Ava II detects the base change of the intervening sequence II (IVS II) which is used as one of the markers of β-globin gene polymorphism. This study was conducted to determine the frequency of the Ava II site on the β-globin gene among normal people and patients with sickle cell syndrome (SCS) in Iran. DNA fragments containing the IVS II region of the β-globin gene from...

متن کامل

Bone marrow necrosis and fat embolism: an autopsy report of a severe complication of hemoglobin SC disease

Sickle Cell Disease encompasses a group of disorders related with the hemoglobin S and other hemoglobin genotypes. The clinical manifestation and the severity of symptoms are dependent on the specific genotype. In this setting, homozygous genotype (HbSS) presents an early onset of symptoms and a low expectancy of lifetime. However, the SC genotype (HbSC), which apparently shows a less severe cl...

متن کامل

Mortality by sickle cell disease in Brazil

This work aimed to characterize mortality by sickle cell disease in Brazil. The MEDLINE electronic database was searched using the terms 'mortality' and 'sickle cell disease' and 'Brazil' for articles published in the last five years aiming to provide a current analysis of the subject in question. Eight studies on mortality by sickle cell disease were carried out in the Brazilian states of Mara...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Ethnicity & disease

دوره 21 2  شماره 

صفحات  -

تاریخ انتشار 2011