What is Sickle Cell Disease?

Sickle cell anaemia is a hereditary defect confined to red blood cells. The basic defect is in the structure of Haemoglobin molecule of the red blood cells. When there is a demand for oxygen i.e. during Physical exertion, exposure to extreme hot or cold climate or during infective conditions like fever diarrhea etc. These cells acquired sickle like shape in oxygen deficient environment. Due to this effect there is early destruction of the cells leading to condition known as sickle cell anaemia.

Why it is named sickle?

This refers to the alteration in silhouette of the red blood cell caused by sickle haemoglobin in oxygen deficient environment. Normal red blood cells are round with thick edge and mid-portion being thinner comparatively. Sickled red blood cells are long, curved and having a shape of sickle, a grass reaping instrument.

What is sickle cell carrier and sufferer status?

There is a pair of chromosome in each gene. SCD is a genetic defect. This defect occurs in two forms, one heterozygous state (suggesting defect on only one chromosome of the pair) and another homozygous state (suggesting defect of both chromosome of the pair).Heterozygote individual usually do not suffer from any symptoms of the disease and hence known as carrier as the carrier passes the sickle cell gene from one generation to other. Trait or carrier as a defective (sickle cell gene) in one pair of chromosome while other one in the pair is normal. While the sufferer patient has defect completely and thus always remains ill. The in-depth studies reveal the following facts:-

  • The parents of sufferer baby are always carrier or sufferer
  • To a carrier parents the chance to have sufferer baby at each pregnancy is 25% carrier baby 50% and baby without sickle cell defect is 25%. In affected population the ratio of sufferer to carrier is 1:20

  • What are the misbelieves about this disease, is sickle cell disease contagious?

    This disease is neither contagious or caused by eating meat nor caused by any sort of evil sprits

    What are the signs and symptoms of Sickle cell disorder?

    The sufferer patient usually suffers from

    1) Paleness (Anaemia)

    2) Jaundice

    3) Joint pains

    4) Enlarged Spleen ( a abdominal organ at the left side below the ribs)

    5) Difficulty in breathing.

    What is Sickle cell crisis?

    In addition to above symptoms one typical symptom experienced by majority of the patients is known as Sickle Cell Crises. Whenever there is increase demand for oxygen in the body i.e. during infections, heavy physical exercise, exposure to extreme cold or hot summer or excess fluid loss, the Sickling process gets accelerated. The sickle red cells entangle with each other and may cause obstruction. When blood flows through micro capillaries, the obstruction may stop further blood supply developing ischemic condition and causes tremendous pain at that site. The frequency, period, intensity of crises varies from individual to individual. When, where, how crises develop is difficult to predict. Pain remains for few minutes or few hours or few days. During crises, pain is unbearable and pain killer drugs have limited effect. Patient cannot tolerate the pain and are helpless. Parents cannot see patient's painful condition. Ultimately whole family get disturbed, worried and scarred about the episode.

    What is the contemporary treatment of Sickle cell Anaemia?

    Sickle cell anemia is an incurable disease. But, medicines can help to relieve signs and symptoms and treat complications if any. Mild pain can be managed at home with over-the-counter painkiller drugs, Hot water bags fomentation, rest, and ample of fluids.

    More severe pain may need to be treated in a day-care clinic or hospital. The common treatments of rapid-onset of joint pains/pains are fluids, medicines, and oxygen therapy (if the oxygen level is low). Fluids help prevent dehydration. Fluids are given either by mouth or through a vein. Doctor might recommend antibiotics in infective condition.

    Treatment for mild-to-moderate pain usually begins with Paracetamol or non-steroidal anti-inflammatory drugs (NSAID's), such as ibuprofen. If pain continues or becomes severe, stronger medicines may be needed. Severe sickle cell anemia can be treated with a medicine called Hydroxyurea. This medicine may reduce painful sickle cell crises.

    Hydroxyurea is used to avoid painful crises. Many people taking the medicine also need fewer blood transfusions. Hydroxyurea can lessen the number of white blood cells in your blood. (These cells help fight infections.) This can lead to an increased risk of infections. So regular blood investigation are needed. The dosage of this medicine may need to be adjusted to reduce the risk of side effects. Orally elemental iron (iron tonics) is usually not advised in sickle cell patients.

    We follow Ayurvedic system of medicine (Indian Medicine) .We found one of the drug prepared by pharmacy of our institution is effective to improve quality of life. On the basis of our experience we have developed a sickle cell medical kit which consists of a polyherbal medicine called SC3, Folic Acid, and Blood alkaliser like Soda mint and Painkillers like Paracetamol. This kit is distributed free of cost.

    How should be dietary regime in sickle cell disease?

    The diet of the sickle cell patient should have

    1) Plenty of fluids.

    2) The green leafy vegetables, grain which are rich in iron like Ragi (finger Millet) can be taken;

    3) Use of fruits rich in vitamin C like Indian gooseberry.

    4) Also naturally iron and protein rich food like jaggery and groundnut may be useful.

    5) Folic acid rich diet like green vegetables like spinach may help the body in producing new blood cells while minimizing the risk of painful crises.

    6) Drink clean and warm water during the winter and rainy seasons. Water is the best medicine for the sickle cell anaemia patients as when the hydration is maintained the pain risk is less.

    7) Drink clean and self cooled water during the summer season. Intake of coconut water, watermelon in summer may be beneficial.

    8) Consume easily available nutritious diet like eggs and milk if available.

    How should be the behavioral regime in sickle cell disease?

    The following things are to be avoided

    Χ Excess physical exertion.

    Χ Exposure to extreme cold or extreme hot conditions.

    Χ Avoid swimming in river streams.

    Χ Avoid climbing mountains.

    Χ Avoid unnecessary stress.

    Χ Avoid physical exertion, Avoid Habits like alcohol, cigarette

    Χ Play ground games like football, cricket (instead homely games like chess, carom may be preferred)


    Use warm cloths to protect your self in winter.

    Use Rain coats and Umbrellas in rainy season keep your self clean and dry in rainy season.

    Avoid / bathing swimming in cold water.

    Use of caps covers your head with a cap or a cloth to protect from extensive hot sunrays.

    Use warm blankets during winters.

    Drink clean and normal water frequently in a day time

    Avoid touring, trekking, hiking and adventurous sports.

    Keep Hot water bags at home for joint pains if any.

    Inform your nearest doctor of your disease when ever you go to him for treatment.

    Practice simple exercises like Yoga, Deep Breathing, and Walking etc.

    What are the techniques to prevent this disease?

    It is incurable disease hence the best way to stop spreading this disease is to avoid the birth of new sickle cell baby. In this the marriage and premarital counselling plays an important role. If both of the parents are carriers and if they have carrier child then they are advice to avoid further pregnancy as there may be a chance of a new sickle cell sufferer birth. In this the family planning measures are useful and introduced the parents. Unfortunately if the carrier parents are having sufferer baby they are advised for advanced diagnostic techniques like pre-implantation techniques, prenatal diagnostic measures like Chorionic Villus Biopsy. These treatments are only available at selected cities in Maharashtra like Mumbai, Nagpur under guidance of expert Haematologist (Blood Disorder Specialist)

    What is the importance of counselling in this disease?

    This is a genetic disorder with no definite cure hence preventive part plays a major role to stop the spread of this disease. We have developed a chart for marriage counseling which can be easily understood. We organize camps and lectures for awareness of this disease. Also the sickle cell sufferer parents are given information about the does and don't in this disease and how to manage and maintain the sufferer child. Which is the right time to seek the help of physician? Importance of Immunization in Sickle cell patients.

    What are the complications of sickle cell disease?

    It is observed that patients have less immunity and hence more susceptible for common infections. With the chronic illness and repeated episodes of crises every organ of the body is likely to be affected, including brain stroke (paralysis), the lungs with respiratory failure, the kidney with renal failure and Avascular necrosis of bones. Avascular necrosis of femur head is a major complication observed in this area.

    How common is sickle cell disease?

    This dependent on the occurrence of the sickle cell trait. In the area we have screened approximately 20 % of the population has the sickle cell trait. However the sufferer is approximately 1.2%. The beta thalassemia trait is a condition where the structure of haemoglobin is usually normal but production is deficient. Inheritance of the beta thalassemia gene from one parent and of the HbS gene from the other results in 2 principal types of condition called sickle cell-beta thalassemia which is an uncommon observed condition in the project area. This condition is known as double heterozygous condition.

    How can you find out if you have sickle haemoglobin?

    Initially simple blood test called solubility test is done which recognizes the presence of sickle cell gene can't distinguish between a carriers and suffer. A test called haemoglobin electrophoresis is done carefully with a special electrophoresis unit designed by Dr.S.L.Kate which can work in the tribal conditions. To elaborate the detailed inheritance we work out for laboratory investigations of the entire family of the suffer patient this is called pedigree analysis.