What are HbH inclusions?
Hemoglobin H bodies are seen as faint blue inclusions. They appear to be on the outside of the cell, resembling sugar on a gumdrop; however, in actuality these inclusions are located just inside the red blood cell’s membrane and push outward.
What is the defect usually found in HbH 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.
What causes HbH?
HbH disease is caused by a loss of three of the four alpha-globin alleles. In these two conditions, a shortage of alpha-globin prevents cells from making normal hemoglobin. Instead, cells produce abnormal forms of hemoglobin called hemoglobin Bart (Hb Bart) or hemoglobin H (HbH).
Who gets alpha thalassemia?
Alpha thalassemia happens when one or more of the genes that control the making of alpha globins is absent or defective. It can cause anemia ranging from mild to severe and is most commonly found in people of African, Middle Eastern, Chinese, Southeast Asian, and, occasionally, Mediterranean descent.
What does alpha thalassemia carrier mean?
People who inherit hemoglobin genes that are altered or missing from one parent but inherit normal genes from the other parent are called carriers. Carriers of alpha thalassemia usually have no signs or symptoms. However, they can pass the faulty genes on to their children.
Is beta thalassemia a disability?
Only those with fairly low income and assets are eligible for SSI, even if they meet the medical eligibility criteria. With regard to medical eligibility, the SSA considers beta thalassemia an inherently disabling disease.
Where is beta thalassemia common?
Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia.
How do you get HGB H disease?
Polycythemia vera – a blood disorder in which your bone marrow makes too many red blood cells
How do people get thalassemia?
Thalassemia is genetic. You inherit it from your parents and you have it from birth. You can’t catch thalassemia the way you catch a cold or the flu. Thalassemia is really a group of blood problems, not just one. To make hemoglobin you need two proteins, alpha and beta.
What is alpha thalassemia vs. Beta thalassemia?
When thalassemia is called “alpha” or “beta,” this refers to the part of hemoglobin that isn’t being made. If either the alpha or beta part is not made, there aren’t enough building blocks to make normal amounts of hemoglobin. Low alpha is called alpha thalassemia. Low beta is called beta thalassemia.
Who discovered alpha thalassemia?
Thalassemia, or Mediterranean anemia, was first described in 1925 by a Detroit physician who studied Italian children with severe anemia (low levels of red blood cells), poor growth, huge abdominal organs, and early childhood death. In 1946, the cause of thalassemia was found to be an abnormal hemoglobin structure.