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 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.
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.
What causes Hemoglobin H disease?
Hemoglobin H disease, or α-thalassemia intermedia, occurs as a result of deletion mutations of three of four α-globin genes, causing a deficiency of the α-globin chains of hemoglobin and an excess production of β-globin chains.
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 happens when you have alpha thalassemia?
In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body’s tissues. Affected individuals also have a shortage of red blood cells (anemia ), which can cause pale skin, weakness, fatigue, and more serious complications.
How is Hemoglobin H disease diagnosed?
Is Hemoglobin H disease common?
Hemoglobin H (Hb H) disease is the most common form of thalassemia intermedia and has many features that require careful consideration in management.
How long can a thalassemia patient live?
“Most thalassaemia patients would live up to the age of 25 to 30 years. Improved facilities will help them live up to the age of 60,” said Dr Mamata Manglani, head of pediatrics, Sion hospital.
Is alpha thalassemia a disability?
Alpha thalassemia/intellectual disability chromosome 16 (ATR-16) syndrome is an extremely rare disorder characterized by intellectual disability, which is milder than in ATR-X syndrome, and alpha thalassemia, which is more severe than in ATR-X syndrome.
How do I know if I am a thalassemia carrier?
You can find out if you’re a carrier of thalassaemia by having a simple blood test. The NHS Sickle Cell and Thalassaemia Screening Programme also has detailed leaflets about being a beta thalassaemia carrier or a delta beta thalassaemia carrier.