In normal adult hemoglobin (Hb A), the predominant type of hemoglobin after the first year of life, 2 of the globin polypeptide chains are identical to one another and are designated the alpha chains. The other 2 chains are also identical to one another but differ from the alpha chains and are termed the beta chains.

What is the difference between alpha and 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.

What does alpha hemoglobin mean?

Alpha thalassemia is a type of thalassemia that is inherited (passed down through families). It is a blood disorder that reduces how well the body produces healthy red blood cells and normal hemoglobin. Hemoglobin is an iron-rich protein in red blood cells that carries oxygen to cells throughout the body.

What is the function of alpha hemoglobin?

Alpha hemoglobin-stabilizing protein (AHSP) is an abundant erythroid protein that specifically binds free alphaHb, stabilizes its structure, and limits its ability to participate in chemical reactions that generate reactive oxygen species.

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.

What happens if both parents are carriers of thalassemia?

Hence the correct answer is option C. If both parents are carriers for thalassemia, which is an autosomal recessive disorder, then there are 25% chances of pregnancy resulting in an affected child.

What are the 4 types of alpha thalassemia?

There are 4 types of alpha thalassemia:

Can a person have both alpha and beta thalassemia?

Yes – both alpha and beta thalassemia – Hgb A2 is elevated indicating beta thalassemia. More profound microcytosis than expected and gene mutation (so alpha thalassemia). Normal Hgb because it is a balanced mutation.

What are the symptoms of alpha thalassemia?

Some of the more common symptoms of alpha thalassemia include:

What causes beta thalassemia?

Beta thalassemia is caused by mutations in the hemoglobin beta (HBB) gene. Individuals with beta thalassemia minor have a mutation in one HBB gene, while individuals with the intermediate and major forms have mutations in both HBB genes.

How is beta thalassemia trait treated?

Treatment for Beta Thalassemia

  1. Treatment by Type.
  2. Blood Transfusions.
  3. Chelation Therapy.
  4. Spleen Removal Surgery.
  5. Stem Cell Transplant.
  6. Treatments for Complications.

What is beta thalassemia trait?

Beta thalassemia is an inherited blood disorder in which the body doesn’t make hemoglobin normally. Hemoglobin is the part of red blood cells (RBCs) that carries oxygen throughout the body. The abnormal hemoglobin can lead to anemia (not enough RBCs in the body) and other medical problems.

What is HBA1 and HBA2?

The HBA2 gene provides instructions for making a protein called alpha-globin. This protein is also produced from a nearly identical gene called HBA1. These two alpha-globin genes are located close together in a region of chromosome 16 known as the alpha-globin locus.

How many beta chains are in hemoglobin?

A hemoglobin molecule is made up of four polypeptide chains, two alpha chains of 141 amino acid residues each and two beta chains of 146 amino acid residues each. In the complete molecule, four subunits are closely joined, as in a three-dimensional jigsaw puzzle, to form a tetramer.

What does the hemoglobin beta gene do?

The HBB gene provides instructions for making a protein called beta-globin. Beta-globin is a component (subunit) of a larger protein called hemoglobin, which is located inside red blood cells.

Can thalassemia patients marry?

Aim: With good care, patients with transfusion-dependent thalassemia major (TDTM) can reach older ages, marry and reproduce.

Do any celebrities have thalassemia?

Famous people Former professional tennis player Pete Sampras is known to be a Thalassemia minor patient. Former professional football (soccer) player Zinedine Zidane is known to be a Thalassemia minor patient.

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.

Can alpha and beta thalassemia marry?

YES , can get married, if only one partner is carrier there is no problem BUT if both are carrier they should undergo prenatal testing.

Can you donate blood if you have alpha thalassemia?

It is a common practice worldwide to accept blood from thalassemic carrier donors who meet the minimum Hb level for blood donation [6]. However, the exception is not applied to Hb S carrier; neither apheresis nor whole blood donations are allowed.

Should I marry a thalassemia minor girl?

Thalassemia, related to the reduction in red blood cells, is rapidly increasing in India forcing doctors to make a fervent appeal for improved awareness and preventive measures at primary and social levels. No two Thalassemia minor patients should be allowed to marry.

Is beta thalassemia fatal?

Beta thalassemia major causes major problems and can result in early death. Complications may include delayed growth, bone problems causing facial changes, liver and gall bladder problems, enlarged spleen, enlarged kidneys, diabetes, hypothyroidism, and heart problems.

Is thalassemia the same as sickle cell?

Beta thalassemia disease is not a form of sickle cell disease, but it is a serious lifelong illness. People who have beta thalassemia disease do not make enough hemoglobin. The amount of hemoglobin a child can produce, determines whether a child has: Beta Thalassemia Intermedia.

Can thalassemia be cured?

Bone marrow and stem cell transplant from a compatible related donor is the only treatment that can cure thalassemia. It is the most effective treatment.

When do you suspect thalassemia?

Moderate and severe thalassemias usually are diagnosed in early childhood. This is because signs and symptoms, including severe anemia, often occur within the first 2 years of life. People who have milder forms of thalassemia might be diagnosed after a routine blood test shows they have anemia.

What are the symptoms of minor thalassemia?

Thalassemia signs and symptoms can include:

Is Alpha thalassemia common?

Alpha thalassemia is a fairly common blood disorder worldwide. Thousands of infants with Hb Bart syndrome and HbH disease are born each year, particularly in Southeast Asia. Alpha thalassemia also occurs frequently in people from Mediterranean countries, Africa, the Middle East, India, and Central Asia.

Can thalassemia minor donate blood?

You must not donate blood if you have had babesiosis. You will be permanently deferred. If you have G6PD (Glucose-6-Phosphate Dehydrogenase Deficiency) or Thalassemia (minor), you can donate blood if you meet the haemoglobin requirement.