Sickle Cell Disease: What Are Its Triggers And What's The Best Way To Manage The Pain?

While sickle cell disease mutation developed as an 'evolutionary advantage' against severe malaria, when this mutation affects both DNA strands, a cascade of events occurs with profound implications for the patient.

Sickle cell disease (SCD) is a serious genetic disorder that happens because of a single mutation in the DNA encoding hemoglobin. Dr Hamza Dalal, associate consultant-hemato-oncology at Fortis Hospital Kalyan explains that hemoglobin is the most important protein present within the red blood cells (RBCs). "It binds oxygen within the lungs' blood vessels, and then transports it to other organs. This function is made possible by certain characteristics of the red blood cell: its covering membrane and shape, which helps it to squeeze within tiny blood capillaries." According to the doctor, the SCD mutation affects 7 per cent of the world's population.

Dr Dalal adds that SCD mutation developed as an 'evolutionary advantage' against severe malaria. "But, when this mutation affects both DNA strands, a cascade of events occurs that results in a debilitating disease with profound implications for the patient." The expert warns that India has the second highest burden of SCD patients, second to Sub-Saharan Africa.

Health Impact Of Sickle Cell Disease

According to the doctor, SCD can affect all organs of the body and lead to stroke, kidney failure, repeated infections, and a chance of an early unexplained death.

In addition to that, one of the most dangerous complications of this disease is recurrent episodes of 'acute painful crises' affecting the extremities (hands and feet) and the back.

These are 'catastrophic events' that happen due to the 'sudden occlusion' of small blood vessels supplying blood to the fingers of hands and feet, states the doctor, adding that it leads to lack of oxygen and nutrients in these areas, causing sudden intense pain.

"Pain, in most cases, is severe enough to warrant hospitalisation and need for intravenous painkillers. In patients who are not on treatment, these episodes may occur multiple times every week leading to school absenteeism, loss of livelihood and abysmal quality of life," Dr Dalal explains, adding that if it is not treated in a timely manner, it can progress to the development of life-threatening conditions.

Recognising Patterns And Triggers

The expert states that many patients are gradually able to recognise patterns and triggers leading to pain. "These triggers are most commonly mild viral infections, dehydration, physical or mental exertion and, sometimes, because of medication taken without supervision. Avoiding these triggers can significantly reduce the number and intensity of vaso-occlusive crises affecting these patients," the doctor advises.

Early identification of the onset of pain and reporting to hospital is most important. Early medical treatment terminates most painful crises, the doctor says, adding that it also prevents the development of serious complications.

Hydroxyurea

According to the doctor, with the development of hydroxyurea, many sickle cell disease patients are able to show excellent disease response. "Advantages of the medication are that it is an inexpensive oral capsule and widely available. Multiple newer drugs are available in the western countries and in the pipeline to be launched in India."

The doctor concludes by saying that most patients with sickle cell disease with good access to quality care do well, and are able to lead normal lives. "For patients with challenging symptoms -- who are not responding to hydroxyurea -- bone marrow transplant offers a curative solution."