Laboratory Diagnosis of Hemoglobinopathies
نویسنده
چکیده
Hemoglobinopathies include qualitative and quantitative disorders of globin synthesis [abnormal hemoglobins (Hbs) and thalassemias, respectively] and comprise the most common inherited disorders of man worldwide. They occur in particularly high frequency in many of the developing countries as a result of selection by endemic malaria, where they can pose a significant public health problem [1]. Additionally, as a consequence of population movements and immigration in the past several decades, Hb disorders are encountered with increasing frequency in industrialized Western countries [1,2].
منابع مشابه
Assessing clinical laboratory funding of Sickle Cell Disease and others associated Disorders in Khuzestan Province
Objective: The aim of this study was to assess clinical laboratory funding for differential diagnosis of sickle cell disease (SCD) and other associated disorders for better understanding of clinical types and prevention of sickling events. Material and Methods: This is a descriptive crossed-sectional study that analyzed the peripheral blood film, sickle cell preparation, hemoglobin electroph...
متن کاملPrenatal and newborn screening for hemoglobinopathies.
The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Increased immigration of high-risk populations has prompted the implementation of prenatal and newborn screening programs for hemoglobinopathies across Europe and North America. In Canada, the UK, and other European countries, prenatal screening to identi...
متن کاملA model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of family members as educational and preventive measures
BACKGROUND The high frequency of hemoglobinopathies in Brazil constitutes a public health problem and thus educational and preventive measures are necessary to reduce the incidence. Genetic guidance, a modality of genetic counseling, and family screening are measures that can assist in reproductive decisions and mitigate clinical, psychological and social problems of families with these disorde...
متن کاملTwo new β-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention
The Reference Hemoglobinopathies Laboratory, Dept. of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands; Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma (CSMR), Rome, Italy; Laboratory of Medical Genetics, University of Athens, St. Sophia’s Children’s Hospital, Athens, Greece; Bogazici University Dept. Molecular Bio...
متن کاملComparison of two analytical methods (electrophoresis and HPLC) to detect thalassemias and hemoglobinopathies
The role of the laboratory in the diagnosis of thalassemia and hemoglobinopathies is crucial. The objective of our study was to compare two common methods used in hemoglobinopathy and thalassemia investigation. Hemoglobin electrophoresis and HPLC (high performance liquid chromatography) were used to investigate patients suspected with thalassemia. A total of 301 adult and child blood samples we...
متن کامل