What is hemoglobin Lepore?
Hb Lepore is one type of hemoglobin disorder in which there is structurally abnormal hemoglobin (Hb) that results from in-frame fusion between the 5 end of the δ-globin gene and the 3 end of the β-globin gene, due to misalignment of homologous chromosomes during meiosis..
What is beta thalassemia?
What is beta thalassemia? Thalassemia (thal-uh-SEE-mee-uh) is a blood disorder that is inherited. This means it is passed down from one or both parents through their genes. When you have thalassemia, your body makes less hemoglobin than normal. Hemoglobin is an iron-rich protein in red blood cells.
What is the most common Hemoglobinopathy?
The most common hemoglobinopathies include the thalassemias (alpha- and beta-) and sickle cell disease (SCD), but hundreds of abnormalities in the globin genes have been described. The diagnosis of hemoglobinopathies requires clear understanding of the genetics and structure of the globin chains and Hb.
What is the meaning of Hemoglobin H disease?
Hemoglobin H disease (HbH) is a form of alpha thalassemia in which moderately severe anemia develops due to reduced formation of alpha globin chains. In this condition, as in the other forms of thalassemia, there is an imbalance of globin chains needed to form hemoglobin.
What is alpha thalassemia?
Alpha thalassemia occurs when some or all of the 4 genes that make hemoglobin (the alpha-globin genes) are missing or damaged. 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.
What is hereditary persistence of fetal hemoglobin?
Hereditary persistence of fetal hemoglobin (HPFH) is a benign condition in which significant fetal hemoglobin production continues well into adulthood, disregarding the normal shutoff point after which only adult-type hemoglobin should be produced.
What are the symptoms of hemoglobinopathy?
Early signs of a hemoglobinopathy include:
- Sleeping longer or more often.
- Shortness of breath.
- Pain or swelling in the hands or feet.
- Cold hands or feet.
- Pale skin.
How is haemoglobinopathy diagnosed?
The detection and characterisation of a haemoglobinopathy involves a 3 tier work up. (1) Full blood count (2) Special haematological tests and (3) DNA testing.
Is Hemoglobin H disease serious?
Hemoglobin H disease. This type causes moderate to severe symptoms. These include lack of energy (fatigue) and exercise intolerance. You may also have an enlarged liver or spleen, yellowish skin, and leg ulcers. You have a greater risk of having a child with the most severe type, alpha thalassemia major.
What blood type is thalassemia?
There are 2 main types of thalassemia: alpha and beta. Different genes are affected for each type. Thalassemia can cause mild or severe anemia. Anemia occurs when your body does not have enough red blood cells or hemoglobin. The severity and type of anemia depends on how many genes are affected.
When does fetal hemoglobin go away?
As they grow babies automatically turn off the production of hemoglobin F and turn on the production of hemoglobin A- It takes about 2 years for a baby to completely switch over to adult hemoglobin. A baby who makes normal fetal hemoglobin will not necessarily be able to make normal adult hemoglobin.
How thalassemia is diagnosed?
If your doctor suspects your child has thalassemia, he or she can confirm a diagnosis with blood tests. Blood tests can reveal the number of red blood cells and abnormalities in size, shape or color. Blood tests can also be used for DNA analysis to look for mutated genes.
How long do thalassemia patients live?
Survival of thalassemia patients The cumulative survival rate from birth until 10 years old was 99%. After reaching the age of 20 years, 88% of the patients survived until 30 years, 74% survived until 45, 68% survived until 50, and 51% survived until 55 years old.
Can thalassemia be cured?
Can thalassemia be cured? A bone marrow transplant from a compatible sibling offers the best chance at a cure for thalassemia. Unfortunately, most people with thalassemia lack a suitable sibling donor. Also, a bone marrow transplant is a high-risk procedure that may result in severe complications, including death.
How is hemoglobinopathy diagnosed?
A hemoglobinopathy evaluation typically involves tests that determine the types and amounts of hemoglobin. Information from these tests, along with results from routine tests such as a complete blood count (CBC) and blood smear, aid in establishing a diagnosis.
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 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.