Boy Who Undergone Splenectomy

Saturday, January 23, 2010
This is the Skull Xray of 10 Years old boy who has been aneamic and undergone splenectomy at the age of 6 years.Identify the Characteristic pattern finding of this Skull X-ray?
What are important points that you have to ask in the history of this patient?






'HAIR ON END SKULL' SKULL IN BETA THALASSEAMIA MAJOR

Thalassemia  is an inherited autosomal recessive blood disease results in reduced rate of synthesis of one of the globin chains in turn there is a defective synthesis of hemoglobin thus causing anemia.In Beta thalassemias production of the ß globin chain is affected due to mutations in the HBB gene on chromosome 11.

CLINICAL FEATURES

 Failure to thrive
 Intermittent infection
 Anaemia - Affected individuals develop profound anaemia from about the third month of life
 Hepatosplenomegaly
 Massive expansion of the marrow leads to serious bone deformities with:
    Typical mongoloid facies
    Frontal bossing of the skull
    Prominent maxillae
    Thinning and trabeculation of the long bones and bones of the hands and feet

INVESTIGATIONS
Full Blood Count and Blood Picture
Low Hemoglobin or Hematocrit
Hypochromic, microcytic anaemia
Target cells are seen
Circulating nucleated red cells are always present
Reticulocytopenia

Iron study indices (To exclude Iron Deficiency Anemia)
   1. Ferritin normal
   2. Total Iron Binding Capacity normal
haemoglobin electrophoresis
prenatal diagnosis is possible - fetal blood sampling or gene probe analysis of amniotic cells
   3. Serum Iron normal

TREATMENT

  1. Chronic blood transfusion therapy - mean transfusion every 4 to 6 weeks
  2. Iron chelation therapy to prevent iron overload desferrioxamine  with  vitamin C.Deferoxamine is given intravenously
  3.  Splenectomy
  4. Allogeneic hematopoietic transplantation

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4 comments

  1. grezzfm Says:
  2. Thalasemia..

     
  3. قبلاوى Says:
  4. hair standing on end appearance

    ask about family history of similar condition

    ask about blood transfusion

    however, the pt. is most probably thalassemic

     
  5. Its hair on end appearence of Thalassemia.....

     
  6. alharbi Says:
  7. Personal Data :Ethnicity of the patient
    HPI : Symptoms of anemia, Jaundice, Abdominal destination, Growth retardation, and skin pigmentation.
    PMHx: Hx of frequent Blood Transfusion,Hx of surgeries.
    FHx: Hx of thalassemia in the family, If the parents are related to each other?!!( not sure )

     

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