Causes and risk factors
The disease is inherited. It runs into families. Deficiency of certain cytoskeletal proteins is responsible for biconcave shape of RBCs.
Clinical presentation
Patient presents with symptoms like fatigue, shortness of breath. Symptoms of anemia like pallor, weakness, exhaustion can occur. There is yellow appearance of skin [jaundice]. Enlarged spleen can occur.
Investigations
Medical history by the patient and clinical examination by the doctor helps in diagnosis. CBC is done. PBS is required which reveals abnormal shape of RBCs. Serum bilirubin level is checked in LFT. Lactate dehydrogenase level is high. Abdominal USG is recommended.
Treatment
Treatment involves surgical removal of spleen. Symptomatic treatment for jaundice, anemia is given. Dietary supplementation of folic acid is advisable to treat anemia. Blood transfusion may be required in severe cases.
Complications
Complications include jaundice, anemia, cholecystitis.
When to Contact a Doctor
When symptoms of jaundice don’t go away or there is presence of gallstones or anemia occur.
Prevention
Genetic counseling of couples with positive family history of the disease who wants to conceive is required.
Systems involved
Circulatory system.
Organs involved
Liver, spleen.
