Thalassemia Cause, Symptoms and Complications

What is cause of thalassemia?
Thalassemia cause is defects in the genes that make hemoglobin. Thalassemias are inherited disorders. That is, they're passed on from parents to their children through genes. People who get abnormal hemoglobin genes from one parent but normal genes from the other are called carriers. Carriers often have no signs of illness other than mild anemia. However, they can pass the abnormal genes on to their children.

Blood cells include red blood cells, white blood cells, and platelets. Red blood cells contain hemoglobin. Hemoglobin is iron-rich protein found in red blood cells, it enables red blood cells to carry oxygen from your lungs to all parts of your body and also carry carbon dioxide from your body to your lungs to be exhaled.

Hemoglobin has two kinds of protein chains: alpha globin and beta globin. If your body can't make enough protein chains, red blood cells don't form properly and can't carry enough oxygen. Your body won't work well if your red blood cells don't make enough healthy hemoglobin. Genes control how the body makes hemoglobin protein chains. When these genes are missing or altered, thalassemias occur.

Risk factors for thalassemia include:
Asian, Chinese, Mediterranean, or African American ethnicity;
Family history of the disorder.

What're symptoms of thalassemia?
Alpha thalassemia silent carriers generally have no signs or symptoms of the disorder.
Alpha or beta thalassemia trait have no symptoms or have mild anemia, and feel tired. It's often mistaken for iron-deficiency anemia.
Thalassemia major have signs and symptoms include:

  • Fatigue
  • Weakness
  • Shortness of breath
  • Pale appearance
  • Irritability
  • Enlarged spleen, liver, and heart
  • Jaundice (a yellowish color of the skin or whites of the eyes)
  • Bone problems (Facial bone deformities)
  • Slow growth
  • Dark urine

What're the complications of thalassemia?
Heart problems. Heart problems, such as congestive heart failure and abnormal heart rhythms (arrhythmias), may be associated with severe thalassemia.

Infection. Infections is the second most common cause of death. People who have had their spleens removed are at even higher risk, because they no longer have this infection-fighting organ.

Osteoporosis. Many patients with thalassemias have bone problems, including osteoporosis. This is a condition in which bones are weak and brittle and break easily.