scholarly journals A novel MYH9 mutation in a beta thalassemia major patient with thrombocytopenia

2018 ◽  
Vol 19 (3) ◽  
pp. 271-272
Author(s):  
Didem Torun Özkan ◽  
Nejat Akar

2021 ◽  
Vol 8 (2) ◽  
pp. 85-88
Author(s):  
Dr. Sneha Mhaske ◽  
Dr. Abhijit Shinde ◽  
Dr. Sonal Shinde ◽  
Dr. Ramesh Kothari ◽  
Dr. Ganesh Misal ◽  
...  

Thalassemia results from defects in normal hemoglobin production, and represents the most common inherited anemia worldwide. Diabetes is a complication of b-thalassemia major. We report a case of Diabetes mellitus in a known case of beta thalassemia major. Patient had undergone Splenectomy 1 year back. Patient is taking chelating agent Defasirox 1000mg orally once a day in the morning. Family history reveals, born through third degree consanguineous marri age. The patient was then subjected for laboratory examination reveals BSL was high, urine ketone 2+,urine sugar 3+, ABG was normal, HbA1c was 13 & 3 month old report of  serum ferritin 1200 ng/dl. Multidisciplinary management was instituted. Blood sugar level got controlled over subcutaneous insulin. Patient may have landed in Diabetic ketoacidosis but was promptly diagnosed & treated. This case is presented for its rarity. As the life expectancy of patients with thalassaemia increases, this will also expose our patients potentially to many more years of hyperglycaemia and diabetes. Sustaining metabolic control and controlling cardiovascular risk factors will be critical in the future for preventing complications due to diabetes.







2010 ◽  
Vol 123 (2) ◽  
pp. 117-120
Author(s):  
Paolo Ricchi ◽  
Massimiliano Ammirabile ◽  
Anna Spasiano ◽  
Silvia Costantini ◽  
Patrizia Cinque ◽  
...  




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