What does a hemoglobinopathy test for?
What does a hemoglobinopathy test for?
A hemoglobinopathy evaluation is a group of tests that determines the presence and relative amounts of abnormal forms of hemoglobin in order to screen for and/or diagnose a hemoglobin disorder.
What is the treatment for hemoglobinopathies?
Stem-cell transplantation is the preferred treatment for the severe forms of thalassemia. Supportive, rather than curative, treatment consists of periodic blood transfusions for life, combined with iron chelation.
What is another name for hemoglobinopathy?
| Hemoglobinopathy | |
|---|---|
| Other names | Hemoglobinopathies |
| Red blood cells from a person with sickle cell trait | |
| Specialty | Hematology |
How long does a hemoglobinopathy test take?
A hemoglobinopathy fractionation blood test diagnoses thalassemias and hemoglobin variants. Preparation: No special preparation required. Test Results: 4-6 days.
Is hemoglobinopathies a disease?
The hemoglobinopathies are a group of disorders passed down through families (inherited) in which there is abnormal production or structure of the hemoglobin molecule. Sickle cell disease (SCD) is one such blood disorder caused by the abnormal hemoglobin that damages and deforms red blood cells.
How many people have hemoglobinopathies?
With approximately 7% of the worldwide population being carriers, hemoglobinopathies are the most common monogenic diseases and one of the world’s major health problems (1, 2, e1, e2).
What is the difference between hemoglobinopathy and thalassemia?
Hemoglobinopathies are due to changes in the normal amino acid sequence of globin. Thalassemias result from imbalance in the normal coordinated synthesis of the globin subunits that make up the hemoglobin tetramer.
What are the 4 types of Haemoglobin?
There is more than one hemoglobin gene: in humans, hemoglobin A (the main form of hemoglobin present in adults) is coded for by the genes, HBA1, HBA2, and HBB. The hemoglobin subunit alpha 1 and alpha 2 are coded by the genes HBA1 and HBA2, respectively, which are both on chromosome 16 and are close to each other.
What are the types of hemoglobinopathies?
Types of hemoglobinopathies include the following, with the predominant type of abnormal hemoglobin in parentheses following the disorder.
- sickle cell disease (HbS)
- sickle cell trait (HbAS)
- sickle cell-hemoglobin C (HbSC)
- sickle cell-thalassemia (HbS and HbA)
- thalassemia.
- hemoglobin C disease (HbCC)
