X-ray Case (5)

[Diagnostic]

A 3 years old boy from Cyprus presented with shortness of breath and fatigability, On examination he is pale with large head, on auscultation there is soft systolic murmur. There is past history of recurrent blood transfusions with multiple fractures. Questions: 1- What is the diagnosis? 2- What is the characteristic appearance of the x-ray? 3- How do you treat this patient? 4- How do you council the parents?

Diagnostic

[Yaxya]

1- What is the diagnosis?
the diagnosis is thalessemia disease which occurs when one or more of the genes fails to produce proteins(alpha or beta)
2- What is the characteristic appearance of the x-ray?
hair on end on the plain X-ray
3- How do you treat this patient?
it depends upon the severity of the disease whether it is minor or major but usually the severe one require frequent blood tansfusion.with attention because frequent blood tranfusion will cause iron overload so in order to avoid this compilication we add iron chelators
4- How do you council the parents?
we can counsil the parents early by means of genetic counseling and screening of the parnts genes to know if they are in carrier status or not.

[Diagnostic]

Thanks Yaxya, Your answers are correct but according to the treatment, this patient is suffering from anemic heart failure so careful blood transfusion is required...

About the counseling:
Educate patients with thalassemia minor about the genetic (hereditary) nature of their disease, and inform them that their immediate family members (ie, parents, siblings, children) may be affected.

The presence of thalassemia major in both parents implies that children will likely have a form of the disease.

Inform patients with thalassemia minor that they do not have iron deficiency and that iron supplementation will not improve their anemia.
Diagnostic