What is an example of hemoglobinopathy?

An example of hemoglobinopathy is sickle cell anemia, which is a genetic disorder due to the abnormality in the hemoglobin molecule. Another is hemolytic anemia caused by a defect in the hemoglobin production.

What are the 4 types of thalassemia?

There are 4 types of alpha thalassemia:

  • Alpha thalassemia silent carrier. One gene is missing or damaged, and the other 3 are normal. Blood tests are usually normal.
  • Alpha thalassemia carrier. Two genes are missing.
  • Hemoglobin H disease. Three genes are missing.
  • Alpha thalassemia major. All 4 genes are missing.

How many hemoglobin variants are there?

More than 1000 naturally occurring human hemoglobin variants with single amino acid substitutions throughout the molecule have been discovered, mainly through their clinical and/or laboratory manifestations.

What is hemoglobinopathy test?

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. Hemoglobin (Hb) is the protein in red blood cells (RBCs) that binds to oxygen…

What are the 5 hemoglobin variants?

List of known hemoglobin variants

  • Hb Bassett.
  • Hb Kansas.
  • Hb S.
  • Hb C.
  • Hb E.
  • Hb D-Punjab.
  • Hb O-Arab.
  • Hb G-Philadelphia.

What is another name for hemoglobinopathy?

Other names Hemoglobinopathies
Red blood cells from a person with sickle cell trait
Specialty Hematology

Why are some hemoglobin variants not considered pathologies?

However, many hemoglobin variants do not cause pathology or anemia, and thus are often not classed as hemoglobinopathies, because they are not considered pathologies. Hemoglobin variants are a part of the normal embryonic and fetal development, but may also be pathologic mutant forms of hemoglobin in a population, caused by variations in genetics.

What do you need to know about hemoglobinopathies?

Hemoglobinopathies: Current Practices for Screening, Confirmation and Follow-up3 I. Executive Summary The hemoglobinopathies are a group of disorders passed down through families (inherited) in which there is abnormal production or structure of the hemoglobin molecule.

What are the different types of hemoglobins?

Hemoglobinopathy. Many other variant hemoglobins—such as types G, J, K, L, N, O, P, Q, and variants of Hb A (“normal” hemoglobin) and Hb F (fetal hemoglobin)—are known but typically do not produce clinical manifestations.

Where does the gene for hemoglobin’s come from?

Hemoglobin S is an inherited variant of normal adult hemoglobin (hemoglobin A). It results from a substitution of valine for glutamic acid in the sixth position of the beta (β) globin chain. The gene for Hemoglobin S has the highest frequency among people of African heritage (about 1 in 10).