Mr Ahmad is a young, thin and hyperpigmented gentleman with short stature. On peripheral examination, he has no stigmata of chronic liver disease. He has conjuntiva pallor and jaundice, with frontal bossing, prominent maxillaries and chipmunk teeth appearance. There is also sparse axillary hair.
Moving on to the abdomen, there is a scar at the left upper quarant, well healed. There is hepatomegaly, measuring 4 f.b, with smooth edges, non pulsative, non tender, and no bruit heard. Spleen is not palpable. There is no ascites, and kidneys are not ballotable. There is no cervical lymph nodes palpable, lungs is clear and no pedal oedema.
In summary, this young gentleman has signs of chronic hemolytic anemia with pallor and jaundice with underlying Thalassemia major and previously undergone a splenectomy. In terms of complications of the disease, he has signs to suggest hypogonadism and iron overload.
I would like to do a few investigations namely blood test of full blood count to make sure he is adequately transfused Hb9-10, LFT is also required. I will also send ferritin level, transfusion related infection of Hep B/C/HIV serology, endocrinology work-up of thyroid function test, HbA1c/FBS and sexual hormones - LH/FSH/Testosterone/Estrogen.
Also, he will need to undergo cardiac MRI T2star for cardiomyopathy and Dexa scan for osteoporosis.