What disease is associated with hemoglobin H?
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 mutation causes hemoglobin Constant Spring?
Hemoglobin Constant Spring (Hb CS) is an abnormal Hb caused by a mutation at the termination codon of an α2-globin gene, TAA—CAA. This mutation leads to the synthesis of unstable and elongated α-globin chains with 172 instead of 141 amino acid residues [1].
What causes hemoglobin H?
Hemoglobin H disease occurs when only one normal alpha gene has been inherited. One of these most common non-deletion subtypes of Hemoglobin H is called Hemoglobin Constant Spring.
Is hemoglobin H disease common?
Hemoglobin H Disease (HbH) (–/-α) HbH is common in Southeast Asia and around the Mediterranean, but occurs rarely in those of African descent. Most patients have Hb 7–10 g/dl with few symptoms and mild hepatosplenomegaly. They may require occasional transfusions during pregnancy or episodes of infection.
How is Hb H disease diagnosed?
HbH disease should be considered in infants or children with mild-to-moderate microcytic hypochromic hemolytic anemia and hepatosplenomegaly. Heinz bodies can be detected on blood smears after cresyl blue staining. Hb biochemical analysis reveals the presence of HbH (5-30%). Diagnosis is confirmed by genetic testing.
Which type of thalassemia disease is Cooley Anaemia?
Thalassemia Major or Cooley’s Anemia. This is the most severe form of beta thalassemia in which the complete lack of beta protein in the hemoglobin causes a life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care.
What is HbE thalassemia?
Hemoglobin E (HbE) is an extremely common structural hemoglobin variant that occurs at high frequencies throughout many Asian countries. It is a β-hemoglobin variant, which is produced at a slightly reduced rate and hence has the phenotype of a mild form of β thalassemia.
How do you treat HbH?
HbH disease Exacerbation of the anemia can be induced by folic acid deficiency, acute infections, exposure to oxidative stress, and pregnancy. Treatment consists of folic acid supplementation (5 mg/day) and periodic blood transfusions when indicated.
How do you treat hemoglobin H?
Treating Hemoglobin H Disease In particular, these include hemolytic and aplastic anemic episodes. Folic acid supplements and avoidance of oxidative compounds and medications are recommended. In mild cases, biannual visits are adequate. In more severe cases, more frequent visits are indicated.
How do people get Cooley anemia?
Thalassemia major is inherited by an autosomal recessive gene, which means that two copies of the gene are necessary to produce the condition, one inherited from each of two carrier parents who have thal minor.