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Sickle Cell Disease

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What is sickle cell disease?

Sickle cell disease is an autosomal recessive genetic disorder caused by a defect in the hemoglobin. Hemoglobin (HbA) is a protein in red blood cells that carries oxygen from the lungs to the rest of the body. The term "sickle cell disease (SCD)" refers to any condition in which the production of HbS leads to pathophysiological consequences. HbS is formed due to a mutation in the gene that encodes the hemoglobin protein. 

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This mutation changes the round, flexible, and smooth red blood cells (RBCs) into sickle-shaped, rigid, and sticky cells once they become deoxygenated. These sickle RBCs clog blood vessels and tiny capillaries, which prevents or slows down blood flow to various parts of the body, causing episodes of pain and a weakened immune system. SCD also leads to the premature death of RBCs, causing anemia.

Treatment

Since Sickle Cell Disease (SCD) is a genetic disorder, it cannot be cured, but it can be managed to improve quality of life and life expectancy.

 

To do so, individuals with SCD should follow the healthy lifestyle guidelines below, along with prescribed medications: 

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  • Strictly avoid the consumption of alcohol, tobacco, and other harmful substances. 

  • Avoid overexertion, especially in hot weather, and keep yourself warm during extreme cold conditions. 

  • Drink plenty of water (at least 10-12 glasses daily). 

  • Consume a diet rich in protein and vitamins, including foods like ragi, peas, beans, nuts, beetroots, berries, green salads, and fruits. Avoid highly processed, oily, and fatty foods, especially those made from refined flour (maida). 

  • Practice regular exercises, such as yoga, pranayama, and relaxation techniques. 

Symptoms of SCD

Symptoms and the severity of complications vary from person to person, but some common ones include: 

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  • Episodes of pain 

  • Dizziness 

  • Difficulty in breathing 

  • Swelling 

  • Fever and cough 

  • Dehydration 

  • Weakness 

  • Irritability 

  • Yellow coloration of the eyes (jaundice) 

  • Loss of appetite 

  • Frequent infections 

  • Slow growth 

Complications of SCD

  • Acute Chest Syndrome 

  • Pulmonary Hypertension 

  • Jaundice 

  • Avascular Necrosis 

  • Stroke 

  • Splenic Sequestration 

  • Hand-Foot Syndrome 

  • Eye Disease 

  • Deep Vein Thrombosis 

  • Leg Ulcers 

  • Priapism 

 

Kidney, Heart and Liver problems expectancy of the affected etc iritability population However, all the complications of SCD lead th sudden unexpected death and decreased the expectancy of the affected population

How is sickle cell transmitted?
Eradication of SCD -Marriage Counselling

Sickle cell disease (SCD) is a genetic condition that is present at birth. It is inherited when a child receives two genes (“SS”), one from each parent, that code for abnormal hemoglobin. Individuals with this genetic makeup are prone to the complications of SCD. 

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Sickle cell trait (SCT) is not a disease; it occurs when a person inherits one sickle cell gene (“S”) from one parent and one normal gene (“A”) from the other parent. People with SCT usually don’t exhibit any signs or symptoms of the disease and generally live normal lives, but they can pass the trait on to their children or future generations. 

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Most Affected Population 

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Millions of people worldwide are affected by SCD. In India, this genetic disorder is more prevalent among the tribal populations of Kerala, Maharashtra, and Gujarat. 

In Kerala, SCD is primarily found in Tamil Nadu, Orissa, and Madhya Pradesh, notably among the Kuruma, Paniya, Naikya, and Chetti communities of the Wayanad district, and in some areas of Attappady. SCD is known to cause high morbidity and mortality within these communities. 

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People can generally be categorized into three groups: 

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  1. People affected by sickle cell disease (SS) – Symptomatic 

  2. Carriers or people with sickle cell trait (AS) – Asymptomatic 

  3. People without the sickle cell gene (AA) – Normal 

 

The only way to eradicate SCD is to prevent its transmission to the next generation. The likelihood of passing on SCD or SCT depends on the genetic combination of the couple: 

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  • SS + AS: If one partner has SCD (SS) and the other has SCT (AS), there is a 50% chance of having a child with SCD and a 50% chance of having a child with SCT. 

  • AS + AS: If both partners have SCT (AS), there is a 25% chance of having a child with SCD, a 25% chance of having a child without the sickle cell gene (AA), and a 50% chance of having a child with SCT. 

  • SS + SS: If both partners have SCD (SS), there is a 100% chance that all their children will have SCD. 

 

Therefore, the only effective way to stop the transmission of SCD is by avoiding marriages between two individuals with SCD (SS) or SCT (AS). Promoting marriages between individuals with SCD or SCT and those with a normal gene (AA)—i.e., combinations of (AA + AA), (AA + AS), or (AA + SS)—can help reduce the disease burden, morbidity, and mortality due to the SCD crisis. 

Diagnosis

A blood test called the sickling test can check for the form of haemoglobin (HbS) that underlies sickle cell disease. However, patients who test positive for abnormal haemoglobin may not necessarily have sickle cell disease; they may only have the sickle cell trait. Therefore, further tests, such as haemoglobin electrophoresis and High-Performance Liquid Chromatography (HPLC), are needed to make a definitive diagnosis.

Detect sickle cell genes before birth:
Sickle cell disease can be diagnosed in an unbon baby by sampling some of the fluid surrounding the baby in the mother’s womb (amniotic fluid). If you or your partner has sickle cell anaemia or the sickle cell trait, consult your doctor about this screening

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