[Biology Class Notes] on Thalassemia Pdf for Exam

Thalassemia is a blood disorder, which comes hereditary and results in the reduction of hemoglobin. Since it is hereditary it is a genetic disorder, which is inherited from a parent to the child. Alpha thalassemia and beta-thalassemia are the two types of thalassemia. For Alpha globin, the severity of the Thalassemia depends on how many of the four genes are missing, and for Beta globin, the severity is dependent on how many of the two genes are missing. It can typically be diagnosed by the common blood test (CBC).

Thalassemia could be a heterogeneous group of autosomal recessive genetic disorders characterized by the decreased or absent synthesis of globin chains, resulting in anemia and microcytosis.

 

What is Thalassemia?

Thalassemia is a genetic blood disorder and in which the body does not make hemoglobin, a protein found in the red blood cell which carries the oxygen. If the hemoglobin count drops it may result in severe conditions. If hemoglobin count drops,  red blood cells may not function properly and last for a shorter period of time, and hence the number of healthy red blood cells traveling in the bloodstream also decreases.  Since Haemoglobin carries oxygen, it works as food to the cells, and due to the decrease of Haemoglobin in the body, the cells do not get their food and hence it results in weakness, fatigue, or shortness of breath. These are the main symptoms of Anaemia, and people who have thalassemia may suffer from either mild or severe anemia. Thalassemia only passes to the child when either one or both the parents carry the disorder. It is caused by the abnormalities of key genes fragments.

Thalassemia minor could be a less severe variety of the disease. There are two primary varieties of thalassemia that are more serious. In alpha thalassemia, a minimum of one among the alpha-globin genes incorporates a mutation or abnormality. The beta-globin genes are affected by beta-thalassemia.

 

Symptoms of Thalassemia

The severity of the symptoms of Thalassemia depends on the type of Thalassemia with which the patient is suffering. For some people, symptoms start appearing from birth, while for others it may take a few years to be visible. Listed below are the common symptoms of Thalassemia:

• Children affected with Thalassemia have slow growth.

• Skin colour turns to either pale or yellow.

• Loss of appetite or poor appetite.

• Fatigue and weakness.

• Deformities in Bone.

• Dark coloured Urine,

• Jaundice.

• Swelling in the Abdominal

You can find the answer to some basic questions regarding Thalassemia here Thalassemia and sickle cell anemia are caused due to class 12 biology CBSE ().

Chances of Inheriting the Disease

Thalassemia is a genetic disorder that occurs when there is an abnormality or mutation in one of the genes involved in hemoglobin production. If only 1 of your parents may be a carrier for thalassemia, you will develop a variety of diseases referred to as thalassemia minor. If this happens, you most likely will not have symptoms, but you’ll be a carrier. Some people develop minor symptoms with thalassemia minor. If both of your parents are carriers of thalassemia, you have got a higher chance of inheriting a more severe type of the disease.

 

Types of Thalassemia

There are three main sorts of thalassemia.

• Beta-thalassemia, which has the subtypes major and intermedia

• Alpha thalassemia, which includes the subtypes hemoglobin H and hydrops fetalis

• Thalassemia minor

 

Thalassemia Treatment

The treatment for thalassemia depends on the sort and severity of the disease involved. Your doctor will provide you with a course of treatment that may work best for your particular case. Some of the treatments include:

• Blood transfusions

• Bone marrow transplant

• Medications and supplements

• Possible surgery to get rid of the spleen or gallbladder

 

Your doctor may instruct you not to take vitamins or supplements containing iron. It can be exactly accurate if you wish for blood transfusions because those who receive them accumulate extra iron that the body cannot quickly eliminate. Iron can build up in tissues, which may be potentially fatal. If you are receiving an intro, you will also need chelation therapy. It generally involves binding with iron and other heavy metals to receive an injection of a chemical. It helps to remove extra iron from your body and make the balance of it.

 

Beta Thalassemia

Beta thalassemia happens when your body cannot produce beta-globin. Two genes, one from each parent, are inherited to form beta-globin. This sort of thalassemia comes in two severe subtypes: Mediterranean anemia (Cooley’s anemia) and thalassemia intermedia.

 

Thalassemia Major

Thalassemia major is the most severe variety of beta-thalassemia. It develops when beta-globin genes are missing. Thalassemia’s major symptoms generally appear before a child’s second birthday. The severe anemia associated with this condition is life-threatening. Other signs and symptoms include:

• Fussiness

• Paleness

• Frequent infections

• A poor appetite

• Failure to thrive

• Jaundice, which may be a yellowing of the skin or the whites of the eyes

• Enlarged organs

This form of thalassemia is typically so severe that it requires regular blood transfusions.

 

Thalassemia Intermedia

Thalassemia intermedia could be a less severe form. It develops thanks to alterations in both beta-globin genes. People with thalassemia intermedia do not need blood transfusions.

 

Alpha Thalassemia

Alpha thalassemia happens when the body cannot make alpha-globin. To form alpha-globin, you wish to possess four genes, two from each parent. This kind of thalassemia also has two serious types: hemoglobin H disease and hydrops details.

 

Haemoglobin H

Haemoglobin H develops when an individual is missing three alpha globin genes or experiences changes in these genes. This disease can result in bone issues. The cheeks, forehead, and jaw may all overgrow. Additionally, hemoglobin H disease can cause:

• Jaundice

• An extremely enlarged spleen

• Malnourishment