What is the difference between alpha and beta thalassemia

Rae Osborn. User assumes all risk of use, damage, or injury. You agree that we have no liability for any damages. Definition of Alpha Thalassemia: Alpha thalassemia is the condition where there is a reduced formation of alpha polypeptide chains because of an absence of alpha genes.

Symptoms of Alpha Thalassemia: In some cases there may be no symptoms and a person can be a carrier. Diagnosis of Alpha Thalassemia: The diagnosis is based on the examination of a smear of blood that shows very small red blood cells. Causes and Risk Factors for Alpha Thalassemia: The condition is inherited and is due to a genetic mutation of the alpha genes that are responsible for making alpha polypeptide chains.

Prevention and Treatment of Alpha Thalassemia: Genetic screening and counseling can help detect if there are genetic anomalies. What is Beta Thalassemia? Definition of Beta Thalassemia: Beta thalassemia is where there is a reduced formation of beta polypeptide chains because of mutations in the beta globin genes that occur on chromosome Symptoms: The symptoms vary depending on the extent of the damage to the genes.

Diagnosis: Beta thalassemia is diagnosed by looking for hemolytic anemia by examining a red blood cell smear under the microscope. Causes and Risk Factors: This is inherited and is due to some type of genetic change mutation that has occurred in the beta globin genes.

Prevention and Treatment: Genetic screening and hemoglobin testing can indicate if a person is carrying the mutation. Difference Between Alpha and Beta Thalassemia Definition Alpha thalassemia is where there is a reduced formation of the alpha polypeptides. Symptoms In alpha thalassemia there can be no symptoms or in severe cases hemolytic anemia and an enlarged spleen, paleness, jaundice, and fatigue.

Diagnosis Alpha thalassemia is diagnosed by the presence of very small red blood cells in a red blood cell smear; genetic testing and electrophoresis of hemoglobin. Causes A mutation of one or more of the alpha genes on chromosome 16, causes alpha thalassemia, while a mutation of one or more of the beta globin genes on chromosome 11 causes beta thalassemia. Beta Thalassemia Alpha and beta thalassemia are both conditions caused by genetic mutations. They both affect hemoglobin but in different ways.

Alpha thalassemia occurs when one or more of the alpha genes are deleted. Beta thalassemia occurs as a result of genetic changes to beta globin genes. In both alpha and beta thalassemia symptoms may be absent or severe depending on which genes and how many are affected.

Author Recent Posts. Her skills lie in research and writing for a range of educational levels and teaching various Biology classes. She has been trained as a lecturer, researcher and computer scientist. She has experience as a writer, researcher and as a college teacher, and is currently working as a freelance writer and editor. For instance, if a person receives a beta thalassemia trait from his father and another from his mother, he will have beta thalassemia major.

If a person received an alpha thalassemia trait from her mother and the normal alpha parts from her father, she would have alpha thalassemia trait also called alpha thalassemia minor. Having a thalassemia trait means that you may not have any symptoms, but you might pass that trait on to your children and increase their risk for having thalassemia. People with moderate and severe forms of thalassemia usually find out about their condition in childhood, since they have symptoms of severe anemia early in life.

People with less severe forms of thalassemia may only find out because they are having symptoms of anemia, or maybe because a doctor finds anemia on a routine blood test or a test done for another reason. Because thalassemias are inherited, the condition sometimes runs in families.

Some people find out about their thalassemia because they have relatives with a similar condition. People who have family members from certain parts of the world have a higher risk for having thalassemia.

Traits for thalassemia are more common in people from Mediterranean countries, like Greece and Turkey, and in people from Asia, Africa, and the Middle East.

If you have anemia and you also have family members from these areas, your doctor might test your blood further to find out if you have thalassemia. Because thalassemia is passed from parents to children, it is very hard to prevent.

Skip directly to site content Skip directly to page options Skip directly to A-Z link. Reliance on any information provided in this article is solely at your own risk. Since the A2 and F were both elevated, you have evidence for beta thalassemia trait in the presence of the hypochromasia.

I am not sure why the alpha chain test was requested, assuming we got the reason for the hypochromasia and microcytosis. I think having the two mutations is possible. It is supposed to make the imbalance in the chains less prominent.

Out of curiosity, I would check a complete blood count on both parents and if both have hypochromic microcytic picture, then I would do Hgb evaluation — one will be consistent with beta and the other is normal — this may confirm the issue. I have two siblings with beta thalassemia trait but also have duplication of the alpha chains 4 on each chromosome They both have a beta thalassemia major phenotype.

Hassan M. The child needs beta gene molecular testing to determine if he is also a carrier for beta thalassemia, as well as for one alpha gene loss. We also need to see the red blood cell and mean corpuscular volume values, as well as iron testing. The gene deletion confirms the alpha thalassemia heterozygosity, and the high Hgb A2 confirms the beta thalassemia heterozygosity, but the microcytosis suggests underlying iron deficiency. A beta thalassemia homozygosity can be excluded because the Hgb is within normal.

The combination between alpha and beta thalassemia heterozygosities is usually normocytic. Single alpha chain deletion does not usually produce anemia or microcytosis unless something else is going on. I suspect the described patient may have an abnormality in the beta-gamma gene complex, perhaps a deletion or non-functional fusion. Why not do genetic studies of this complex? Single gene alpha thalassemia mutation is not usually associated with either microcytosis or an elevation in either Hgb F or Hgb A2.

I would favor this patient having both alpha thalassemia — silent carrier and a beta-positive thalassemia trait. James L. Though his Hgb electrophoresis is suggestive of beta trait, his Hgb F level is high. There may be coexistent Xmnl mutation. Again, he has normal reticulocyte count. In my opinion, this child should be considered as beta trait only. I would answer yes, since the patient has an elevated Hgb A2 and a markedly decreased mean corpuscular volume.

The latter is usually not that low — single gene deletion alpha thalassemia usually causes only a mild decrease in mean corpuscular volume.

Donald I. I strongly favor concurrent alpha and beta thalassemia traits. First of all, the degree of microcytosis is not explained by a single alpha gene deletion. In addition, Hgb A2 would be expected to be decreased in association with alpha gene deletions sufficient to cause microcytosis. Conversely, in beta thalassemia trait Hgb A2 is generally increased as a relative percentage, as is seen in this case. Since alpha and beta thalassemia traits are relatively common in certain populations such as Southeast Asians , it would not be surprising to find cases of both occurring in the same individual.

The hemoglobin electrophoresis is consistent with beta thalassemia trait.