What disease is caused by a mutation in hemoglobin?

What disease is caused by a mutation in hemoglobin?

Mutations in the HBB gene cause sickle cell disease. The HBB gene provides instructions for making one part of hemoglobin. Hemoglobin consists of four protein subunits, typically, two subunits called alpha-globin and two subunits called beta-globin.

What disorder is caused by a mutation?

But the mutations we hear about most often are the ones that cause disease. Some well-known inherited genetic disorders include cystic fibrosis, sickle cell anemia, Tay-Sachs disease, phenylketonuria and color-blindness, among many others. All of these disorders are caused by the mutation of a single gene.

What is an abnormal hemoglobin?

A hemoglobin abnormality is a variant form of hemoglobin that is often inherited and may cause a blood disorder (hemoglobinopathy). Hemoglobin is the iron-containing protein compound within red blood cells that carries oxygen throughout the body.

What are rare genetic disorders?

There are many different types of rare genetic diseases that can affect the development of a child. Mitochondrial disorders and cri du chat syndrome are a couple examples of rare genetic disorders. Van der Woude syndrome and Angelman syndrome are also types of rare diseases. Owing to their rarity, information about these diseases is limited.

What is hemoglobin H disease?

Hemoglobin H disease. Hemoglobin H disease is a type of alpha thalassemia caused by impaired production of three of the four alpha globins, coded by genes HBA1 and HBA2.

What are the types of hemoglobin?

Hemoglobin (Hgb) is comprised of many different types, the most common being A 1, A 2, F, S, and C. Hgb A 1 is the major component of hemoglobin in the normal red blood cell.

What are hemoglobin genes?

Hemoglobin, alpha 1, also known as HBA1, is a hemoglobin protein that in humans is encoded by the HBA1 gene.