Thalassaemia

This 20 year old young man was referred from our paediatric colleagues for further follow up and management. Please examine his abdominal system.


Suggested presentation
(When turning to the examiner)

I would like to complete my examination by examining his genitalia, doing a per rectum examination.

(If asked to present your findings)

This thin young man is pale, jaundiced, hyperpigmented and short for his age. He has frontal bossing, prominent maxillaries and chipmunk facies with maloccluded teeth. There is also sparse axillary and pubic hair

The abdomen is distended and there is a left lower quadrant scar. There is hepatomegaly, extending 4 finger breadths beneath the costal margin. The liver has smooth edges and non tender on palpation. The kidneys are not ballotable. There is no shifting dullness to suggest the presence of ascites.

I did not find any lymph nodes in him. There were no features to suggest chronic liver failure. He does not have any abdominal puncture wounds to suggest the use of desferral

In summary, this is short young man with jaundice, pallor, hepatomegaly, a previous splenectomy done and has thalaessaemic facies and possible underlying hypogonadism and haematochromatosis. He has chronic hemolytic aneamia. He is transfusion dependent.

I would like to offer the differential of a haemoglobinopathy. The most common haemoglobinopathy in this part of the world is Thalaessaemia.


Quenstions
1.What investigations would you like to do?
I would like to confirm the underlying cause of hemolytic anemia by doing serum electrophoresis. I would like assess the complications of treatment and patient’s disease by doing LFT, coagulation profile, hormonal assay, hepatitis serology and echocardiogram, also T2* MRI to assess the heart status from iron overload. I will assess his functional status using FBC.

2.How would you like to manage this young man?
a. Treatment of Disease- hypertransfusion, Splenectomy, Pneumococal vaccination, bone marrow transplant in some centres
b. Treatment of its complications-hormone replacement therapy, iron chelation therapy, control heart failure
c. Patient and family education, genetic counseling is also important so that family members can be screened and treated early.

Scars in Thalassemia may be due to previous cholecystectomy or splenectomy. Laparascopic scars may give you a small scars (Look for it carefully!!)