Please enable JavaScript.
Coggle requires JavaScript to display documents.
THALASSEMIA - Coggle Diagram
THALASSEMIA
Alpha thalassemia
Alpha-thalassemia (-thalassemia, -thalassaemia) is a kind of thalassemia in which the HBA1 and HBA2 genes are involved. Thalassemias are a set of genetic blood disorders in which the production of haemoglobin, the molecule that transports oxygen in the blood, is hindered.
Caused by mutations in two different genes, the HBA1 and the HBA2 genes. Most individuals inherit two copies of each gene (for a total of four genes); one of each from a person's father, and one of each gene from a person's mother.
Types:
Silent alpha thalassemia carrier, Alpha thalassemia minor or having alpha thalassemia trait, Hemoglobin H disease & Alpha thalassemia major or hydrops fetalis.
Sign & Symptoms
Fatigue, weakness, or shortness of breath, a pale appearance or a yellow color to the skin (jaundice), irritability, deformities of the facial bones, slow growth, a swollen abdomen & dark urine.
Lab diagnosis
Complete blood count (CBC), Hemoglobin electrophoresis, Ferritin & DNA testing.
How is it treated?
Daily doses of folic acid, Blood transfusions (as needed), Surgery to remove your spleen, Medicines to reduce extra iron from your body (called iron chelation therapy) & Not using certain oxidant medicines in hemoglobin H disease
Beta thalassemia
Beta thalassemia is a blood condition in which haemoglobin synthesis is reduced. Hemoglobin is an iron-containing protein found in red blood cells that transports oxygen to all of the body's cells.
Low haemoglobin levels cause a shortage of oxygen in numerous regions of the body in patients with beta thalassemia. Red blood cells are also in insufficient supply in those who are affected. People who have beta thalassemia are more likely to develop irregular blood clots.
sign and symptoms
Anemia is a life-threatening condition that affects children.
They do not acquire weight or grow at the usual rate (failure to thrive), and their skin and eyes may become yellow (jaundice)
Affected people may have an enlarged spleen, liver, or heart, as well as deformed bones.
Blood transfusions are required on a regular basis to replace their red blood cell reserve.
It lead to an accumulation of iron in the body, causing issues with the liver, heart, and hormones
Causes
The HBB gene has mutations.
Beta-zero (0) thalassemia is characterised by the lack of beta-globin.
Only one gene has been harmed. Anemia is less severe as a result of this.
This sort of person has a 50% probability of passing the gene on to their offspring.
lab diagnosis
Complete blood count (CBC): This test checks the size, number, and maturity of different blood cells in a set volume of blood.
Hemoglobin electrophoresis with hemoglobin F and A2 quantitation: A lab test that differentiates the types of hemoglobin.
How it is treated?
Blood transfusions on a regular basis
Medicines that help you get rid of excess iron in your body (called iron chelation therapy)
Heart and liver function should be checked on a regular basis.
Bone marrow transplant genetic testing
other names for this condition
Erythroblastic anaemia
Anemia in the Mediterranean