Is there no way to stop this?’: Hit by hereditary blood disorder across 3 generations, Pune family wonders how many more
Six-year-old Anvika Nevse has changed out of her hospital gown and into a white frock, waiting eagerly for the doctor’s go-ahead to leave. It has been a week since her spleen and gallbladder were removed at Dr Shashank Shah’s Laparo-Obeso Centre in Pune and she is ready to go home. Her father Akshay, 33, who had his spleen removed at the age of 8, stands by her side and tells the little girl that his father, Kailas, too, had the same surgery in his early 20s.
Not just these three, Akshay’s sister Disha Pawar also underwent a splenectomy (surgical procedure to remove the spleen) when she was 10 years old, and her five-year-old son, too, may need it. In a rare case, one family has been affected by an inherited blood disorder called hereditary spherocytosis. This condition causes abnormally shaped red blood cells to become trapped in the spleen, leading to its enlargement and, in most instances, requiring surgical removal.
Talking to The Indian Express, Dr Shashank Shah, a noted general and bariatric surgeon, says, “Data varies on how many people have this hereditary disorder but according to estimates, 1 in 2,000 to 5,000 people worldwide have hereditary spherocytosis.”
I have treated 20 patients with this rare genetic disorder so far, but this is the first case where it has been passed down three generations in a single family,” adds Dr Shah.
Both Akshay Nevse and his sister Disha Pawar vividly remember the surgery they had to undergo then at Poona Hospital and feel helpless that their children now have to face a similar fate.
“It was sometime in the 1970s when my father’s spleen was removed at Mission Hospital, Wai. We were staying at Akluj in Solapur then, and my father would tell us about the episode when he would often remain listless and unable to work at the farm. My grandmother would also suffer abdominal pain and had low haemoglobin levels. But in those days, she was not immediately diagnosed with spherocytosis,” Askhay recalls.
Little did Akshay’s father Kailas know that his children would inherit this disorder. “I was diagnosed with spherocytosis at Ruby Hall in Pune and then later surgically treated at Wai’s Mission hospital. Two to three days after my spleen was removed, the haemoglobin (Hb) levels shot up. However, when my children started showing similar symptoms, I decided to consult the doctors immediately. Imagine my distress then that their spleen also had to be removed,” says Kailas, 71, who now stays in Baramati with son Akshay and his family.
Akshay also remembers that he required a blood transfusion every three months before his surgery in 1999 at Poona Hospital. Diagnosed with spherocytosis, he would often feel weak and have pale skin. The condition also impacted his height growth.
Askhay’s sister Disha, 28, who underwent the surgery in 2006, says that she also had low haemoglobin (Hb) levels and had fainted once at the school’s assembly hall. “However, after the surgery, my Hb level improved, and I have to maintain a healthy lifestyle,” she says.
Splenectomy effective treatment, says doctor
According to Dr Shah, in patients with spherocytosis, red blood cells are more fragile and, hence, prone to getting destroyed, especially in the spleen. The spleen filters out damaged red blood cells, leading to a faster rate of hemolysis (destruction of red blood cells) and contributes to anaemia, jaundice and sometimes gallstones. Removing the spleen can reduce the rate of hemolysis, Dr Shah says.
“While patients are at a higher risk for certain infections, vaccinations like pneumococcal, meningococcal and Haemophilus influenzae are recommended,” he says.
A patient is always immunised before surgery to protect against infections,” Dr Shah adds.
While Dr Shah’s team takes care of the finer details, advising the family about vaccinations and precautions to be taken to avoid infection, both Disha and Akshay wonder how long the future generations will be affected in their family.
“Is there no cure to stop this progression? I have suffered, and so has my brother, along with my father. Medical tests indicate that my five-year-old son may soon have to undergo this major surgery,” says Disha, who feels it is futile now to give birth to another child.
Anvika’s mother Sonal, too, echoes similar sentiments. While she says that her daughter is recovering well after both her spleen and gallbladder were removed on April 2, both she and Akshay are worried about their three-year-old son.
“Is there no way to stop the inheritance of this genetic condition,” Akshay asks as he, too, has to maintain a healthy lifestyle to avoid any problems with the gallbladder.