نتایج جستجو برای: hemoglobinopathies

تعداد نتایج: 1591  

Journal: :Deutsches Aerzteblatt Online 2011

Journal: :The Egyptian Journal of Internal Medicine 2022

Abstract Background Hemoglobinopathies represent a set of inherited red blood cell (RBCs) disorders, characterized by abnormal hemoglobin molecule. They include qualitative and quantitative hemoglobinopathies, with structurally globin chain in the first defective production later. This study assessed, for time, significance mathematically calculated RBC indices to identify patients hemoglobinop...

Journal: :Family medicine and primary care 2023

Rationale and Objectives: Hemoglobinopathies are among the most commonly inherited genetic disorders in humans considered as a major public health problem Saudi Arabia. The prevalence of hemoglobinopathies is severe threat to society future generations if assessment pre-marriage cohorts not monitored. purpose this study analyze type relation age, gender mutations assess cohort. Materials Method...

Journal: :Journal of Medical Genetics 1988

2009
Slaheddine Fattoum

Hemoglobinopathies are a group of inherited hemoglobin disorders. Initially described in the subtropical regions, they are now spread all around the world because of migration. Their high frequency and clinical severity make them a major public health problem mostly in Africa due to the limited resources reserved for the management and prevention of these diseases. Despite considerable advances...

Journal: :Hemoglobin 2009
Carsten W Lederer A Nazli Basak Yesim Aydinok Soteroula Christou Amal El-Beshlawy Androulla Eleftheriou Slaheddine Fattoum Alex E Felice Eitan Fibach Renzo Galanello Roberto Gambari Lucian Gavrila Piero C Giordano Frank Grosveld Helen Hassapopoulou Eva Hladka Emmanuel Kanavakis Franco Locatelli John Old George P Patrinos Giovanni Romeo Ali Taher Joanne Traeger-Synodinos Panayiotis Vassiliou Ana Villegas Ersi Voskaridou Henri Wajcman Anastasios Zafeiropoulos Marina Kleanthous

Hemoglobin (Hb) disorders are common, potentially lethal monogenic diseases, posing a global health challenge. With worldwide migration and intermixing of carriers, demanding flexible health planning and patient care, hemoglobinopathies may serve as a paradigm for the use of electronic infrastructure tools in the collection of data, the dissemination of knowledge, the harmonization of treatment...

Journal: :Annals of Pathology and Laboratory Medicine 2022

Introduction: Hemoglobinopathies and thalassemias are the most common single gene disorders in world. World Health Organization figures estimate that 5% of world populations carriers a potentially pathological hemoglobin (Hb) gene. The general incidence thalassemia trait sickle cell anaemia India varies between 3-17% 1-44% respectively3 but because consanguinity, caste area endogamy, some commu...

We present a 34-year-old man with combination of beta thalassemia intermedia and coagulation factor VII deficiency who was presented with pallor and irregular nose bleeding episodes. On physical examination, he had splenomegaly and yellow sclera. Pallor and splenomegaly could be reminder of thalassemic syndromes or hemoglobinopathies including thalassemia intermedia. Association with unusual bl...

2012
Bikash Mondal Soumyajit Maiti Biplab Kumar Biswas Debidas Ghosh Shyamapada Paul

BACKGROUND Hemoglobinopathies are a group of inherited disorders of hemoglobin synthesis. It could be formed a fatal scenario in concern of lacking of actual information. Beside this, ABO and Rh blood grouping are also important matter in transfusion and forensic medicine and to reduce new born hemolytic disease (NHD). MATERIALS AND METHODS The spectrum and prevalence of various hemoglobinopa...

Journal: :International journal of laboratory hematology 2013
C C Hoppe

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...

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