Dr. Esha Kaul, Executive Consultant , Hemato-Oncologist, Jaypee Hospital
Anemia is a very common but poorly understood blood disorder.. Anemia can be caused by a variety of different reasons which range from simple nutritional deficiencies to complex genetic disorders. The other symptoms associated with anemia can be different depending on the cause. It is commonly held misconception that all anemia can be cured by eating red foods like pomegranate and beetroot. There are hundreds of mechanisms of anemia and every type requires careful evaluation and individualized care plan.. Considering the fact that anemia affects about 24.8 percent of world population, it is a underappreciated public health problem.
One of the genetic causes of low hemoglobin is sickle cell anemia. It is a complex blood disorder which can affect several organs and have an impact of quality of life as well as overall life expectancy.
What is Sickle Cell Anemia-?
Normal healthy red blood cells are round in shape. In sickle cell anemia is a condition where hemoglobin becomes defective and these red blood cells become altered in shape and become moon or sickle shaped. As a result these cells
- clog the blood vessels
- cause episodes of severe pain by cutting off oxygen to tissues and body organs,
Further these cells get trapped in spleen (an organ that gets rid of old cells) where they are destroyed. Body cannot replace the lost cells fast enough. As a result, the body has fewer red blood cells which leads to anemia.
Sickle cell anemia is most commonly seen in Sub-Saharan Africa and some parts of Middle-East. However different forms of sickle cell disease are also found in some parts of India including Orissa, Chattisgarh, Madhya Pradesh, Bihar and Jharkhand. Unfortunately there is very little awareness about sickle cell disease in India and a lot of people suffer in silence for a number of years without a proper diagnosis.
Symptoms of Sickle cell anemia-
As sickle cell anemia is genetic, if a couple (both partners) are carriers which is referred as sickle trait then there is a 25 percent chance that their child is going to get sickle cell disease. But if one of the partners has this disease then child can have the trait, that is be a carrier but will not have symptoms of severe sickle cell disease. In families and areas where this is prevalent, early screening is helpful. Symptoms that need to be aware of are-
- Swelling in hands and feet.
- Blood clots
- Joint pain
- Life threatening infections
- Episodes of pain lasting several hours.
Diagnosis and treatment-
The largest percentage of normal hemoglobin in an adult is Hemoglobin A. In sickle the percentage of abnormal Hemoglobin S becomes higher and leads to symptoms. This can be screened by a simple test called Hemoglobin electrophoresis or HPLC. Medical management of sickle cell includes blood transfusions, preventive medications to prevent infections, hydration. Vitamin supplements such as folic acid and B 12 can help maintain the hemoglobin but some people require blood transfusions. Mild to moderate pain crisis can be managed with oral pain medications but severe pain episodes require hospitalization and intravenous pain medications. A medication called hydroxyurea can be very beneficial to decrease the severity of symptoms. In most severe forms children can develop strokes , pneumonia requiring ICU stay and joint deformities. Frequent monitoring with blood counts, liver and kidney function tests, urine tests and tests to look for heart problems with a hematologist should be done. These measures can improve the quality of life to some extent but are not curative.
The only curative treatment for sickle cell disease is allogeneic bone marrow transplant. This modality is beneficial for patients who have severe manifestations of disease which cannot be managed with medications. Marrow can be donated ny unaffected siblings or through finding unrelated donors through donor registries. These days haploidentical or half matched bone marrow transplants are also proving successful and have made this life saving treatment available to a wider group of patients. Results are best if transplant is done at a younger age .
Overall the life of a child or adult with sickle can be very miserable . It is important to understand that with apppropriate diagnosis and management and some simple interventions patients can have a better quality of life. Treatment has to be indivisualized and is multidisciplinary. For patients who are good candidates for bone marrow transplant, this treatment modality can completely transform the lives of these patients. These patients often develop social and behavioral problems due to frequent pain episodes, especially when their pain is poorly understood and treated by a healthcare system which is not equipped to recognize and treat these patients. Being a lifelong disorder these patients, a vast majority of them being children, need a lot of empathy and compassion.
