Is Hemoglobin H disease serious?
Complications. In addition to anemia and hydrops fetalis, severe cases of alpha thalassemia and hemoglobin H disease can lead to serious complications, especially if untreated. Complications of alpha thalassemia include: Excess iron.
What percentage of the population has alpha thalassemia?
Some studies have estimated that as much as 5% of the world’s population carries an alpha-thalassemia variant (i.e., a mutation in one of the two pairs of genes associated with alpha thalassemia).
What causes Hemoglobin H disease?
By Ashutosh Lal, MD. 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.
Is alpha thalassemia life threatening?
Missing three alpha thalassemia genes (Hemoglobin H disease): (α-/–), this disease causes health problems and requires treatment by a physician. Missing four genes (Hydrops fetalis): (–/–), this is a life threatening disease.
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.
What are the symptoms of Hemoglobin H disease?
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 percent of the population has thalassemia minor?
In fact, only 1.7% of the global population has signs as a result of the gene mutations, which is known as a thalassemia trait. However, particular ethnic groups are more likely to be affected, with between 5% and 30% of these populations experiencing symptoms of thalassemia.
How much percentage of the world population is suffering with thalassemia minor?
Worldwide, approximately 15 million people are estimated to suffer from thalassemic disorders. Reportedly, there are about 240 million carriers of β- thalassemia worldwide, i.e. 1.5% of world population, and in India alone, the number is approximately 30 million with 505 in S.E.
How is Hemoglobin H disease inherited?
Each person inherits two alpha-globin alleles from each parent. If both parents are missing at least one alpha-globin allele, their children are at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia trait.
What is the life expectancy of someone with thalassemia?
Persons with the thalassemia trait have a normal life expectancy. Persons with beta thalassemia major often die from cardiac complications of iron overload by 30 years of age.
Is alpha thalassemia a disability?
Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness ( hypotonia ), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms.
What genotype represents Hb H disease?
Description. Hemoglobin H disease is a subtype of alpha-thalassemia (see 604131) in which patients have compound heterozygosity for alpha(+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by Lal et al., 2011).
