As circular cells become curved and clog our capillaries

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Very few people know about sickle cell disease. This is a genetic disease with a limited geography, and confined within selected communities. Even in India, it has a limited geographic distribution. There are many families that carry the sickle cell gene in Madhya Pradesh, Eastern Maharashtra, Chhattisgarh, Odisha, Gujarat and parts of Deccan plateau. However, the condition is virtually non-existent in more populous North, West and the East. The disease predominantly affects tribal communities.

What are Red blood cells ?

Blood is red, as it has billions of red blood cells. When we put a tiny drop of blood under a microscope, these red cells are nothing but hollow circles. While other cells in blood are more colorful and big, these circular red cells are rather sober, smaller yet numerous. It is an irony, that these hollow-circles carry oxygen, the most important nutrient of our lives. Every single minute of our lives, these cells pick-up oxygen from our lungs, and distribute it to all other parts of our body.

Story of Walter Clement Noel

Walter Clement Noel (b1884) was born in Granada in Caribbean islands. In 1904, he travelled to US to study dentistry. It was rare for a person of African American descent to enroll in a university. The same year, Noel developed pneumonia and was admitted to a hospital in Chicago. He was treated by Dr. James B. Herrick, not once but multiple times. Noel presented to Herrick with peculiar aches and pains, infections and vomiting.

Earnst Irons, Herrick’s intern noticed some peculiar cells in Noel’s blood smear. His red-cells were not circles as expected, these were elongated curves. Further, Noel also had a low hemoglobin level. Herrick reported this occurrence in 1910 in a medical journal as a case report. This report is worth a read (see here).

Noel completed his studies and returned home to Granada. However he died in 1916, at a young age of 32. Meanwhile, many other physicians in the US reported instances of curved red bleed cells. By 1920, this disease was established as a “Sickle cell Disease”. These curved cells, would clog the small blood vessels (or capillaries). While Walter Noel was the first documented person with Sickle cell disease, the condition affected many in Africa. A disease firmly tied to black races.

A faulty hemoglobin

Red cells are rather simple. They normally live on for about 120 days. It is the only cell in humans that has no genetic material (or nucleus). It is filled with hemoglobin, and just a few other enzymes. Hemoglobin is an efficient oxygen courier, picking up and dropping off oxygen. By 1949, the fault was recognized in a beta-globin chain, by Linus Pauling and colleagues. In the same year, it was hailed as a first “molecular disease”. Pauling also coined the term “molecular medicine” after this discovery.

Faculty hemoglobin makes red cells curved

The faulty haemoglobin in sickle cell disease is due to a small change in our genetic code. This one amino-acid change in the code, replaces glutamic acid with valine in the beta-globulin chain. Over the years, this defect was seen across populations in Africa, and in small pockets in Mediterranean and India. It is presumed that this defect confers a survival advantage, as it does not allow malarial parasite to infect the red-cell. This advantage comes with a disadvantage, that the curved cells clog small capillaries, and often get stuck there. These stuck curved cells now need to be broken down in tissues as well as in our spleen.

Rising up from a disadvantage

Sickle cell disease has a limited geography. It probably originated about 7000 years ago in Africa, and moved with the migrating populations. In 1952, we first noticed its occurrence in Tamil Nadu, India, and over the years in other populations in central India.

Regardless of limited geography, the impact of the condition on a person is enormous. Clogged vessels ache our bones and muscles. Initially spleen becomes big, before it withers away. More blocked capillaries means a higher risk of infection, and sometimes distorted bones. Yet, advocacy for the disease is limited. The treatment remains largely supportive, and advances for this first ‘molecular disease’ have just trickled in.

A limited Philately

Like the disease, Sickle cell disease philately is quite limited. There are only three issues till date. First one is a 2004 issue from US. This issue shows a mother, caring for her child with a slogan “Test early for sickle cell”.

World Sickle cell day and the second issue

Edwidge Ebakisse Badassou, is mother of a child with sickle cell disease. She grew up in Paris, and took up sickle cell advocacy. She, along with many other mothers from French Africa, created Francophone Network for the Fight Against Sickle cell disease in 2001. With her determination, in 2003 the same organisation became OILD (the International Organization for the Fight Against Sickle Cell). OILD took up the goal of making Sickle cell disease a global public health priority.

A good 100 years after Walter Clement Noel made his journey to the United States, World Health Organization woke up to recognize this disease as global. In 2005-06 UNESCO and then WHO recognized sickle cell disease as a problem. On June 19, 2009 we had our first World Sickle Cell Day. The second postage stamp set on Sickle cell disease is from Kenya, issued in 2019 on ten years of World Sickle Cell day (19th June 2019). The set shows a family of four, children, and parents.

Indian Sickle cell disease postal issue

Very recently on 1st July 2023, India Launched its National Sickle Cell Anemia Elimination Mission. Focus is on early detection, and genetic counseling in 278 districts of India. Finally, the disease is on the map and hope for more fruitful years to come. India has also declared 2047 as a elimination target for the disease – to be achieved largely through testing and genetic counseling.

India observes 15th November as the Day of the Tribes. Since sickle cell disease predominantly affects this population, Indian post issued a commemorative stamp on this day in 2024. India’s health ministry has listed sickle cell disease as one of the 10 special problems in tribal heath that affect the tribal people disproportionately. The focus focus of the program is on universal population-based screening, prevention, and management of sickle cell anemia in all tribal and other high prevalent areas of India. 

India contributes to about 15% of all sickle cell disease individuals in the world. It is estimated that more than 40,000 children are born with the disease every year, and about 9 lakh with the hidden form or the trait. Genetic counseling can succeed only when all of them are screened and know their status if they have a disease or a trait. Current focus of the program in India is to screen all of them.

In first year of existence, the National Sickle Cell Anemia Elimination Mission has screened more than 3.37 crore individuals, and of them 9.75 lakh are identified as carriers (or trait), and 1.40 lakh as having disease.