Bloom Syndrome
Bloom Syndrome is a rare genetic disorder with fewer than 300 cases reported worldwide. Recently, a 12-year-old girl in Chennai underwent a bone marrow transplant using stem cells from her younger brother, marking medical intervention in India. This disorder affects DNA repair mechanisms, leading to multiple health challenges and a high risk of cancer.
Genetic Basis and Inheritance
Bloom Syndrome is caused by mutations in the BLM gene. This gene produces a protein essential for maintaining DNA structure during replication and repair. When mutated, cells lose the ability to fix damaged DNA, causing abnormal cell growth. The condition is inherited in an autosomal recessive pattern. Both parents must carry the mutation for a child to be affected. It is most common among the Ashkenazi Jewish population but occurs worldwide.
Signs and Symptoms
Symptoms vary widely but often include poor growth before and after birth. Affected individuals typically have below-average height and head size, with distinct facial features such as a narrow face, prominent ears, and a high-pitched voice. Skin sensitivity to sunlight causes red rashes and abnormal pigmentation. Insulin resistance can lead to diabetes. Immune deficiencies increase vulnerability to infections like ear and lung infections and chronic obstructive pulmonary disease. Other issues include hypothyroidism, developmental delays, and fertility problems in adults. Intellectual abilities are usually normal but learning disabilities may occur.
Health Complications
People with Bloom Syndrome face a markedly increased risk of cancer, often developing it early in life. By age 40, over 80% develop cancers such as leukaemia, lymphoma, gastrointestinal cancers, skin cancer, Wilms tumour, and osteosarcoma. The risk of cancer is 150 to 300 times higher than in the general population. These cancers appear more frequently and at younger ages.
Diagnosis and Management
Diagnosis is confirmed through cytogenetic analysis, which detects chromosome abnormalities. There is no cure for Bloom Syndrome. Treatment focuses on managing symptoms and preventing complications. This includes careful fluid management in infants, antibiotics for infections, immune globulin therapy for immune deficiencies, and regular monitoring for diabetes and thyroid problems. Patients are advised to avoid sun exposure and have frequent dermatological check-ups. Cancer screening is essential due to the high risk.
Bloom Syndrome in India
Though rare, cases have been reported in India. Medical literature documents a few instances, including children and adults with respiratory complications and other symptoms. The recent bone marrow transplant in Chennai marks advances in treatment options available in the country.
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