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In The Name of God

In The Name of God. Presentation of lytic bone lesions and severe bone pain as a first presentation of sickle thalassemia in a 9 year old girl Dr. A. Tamaddoni Associate professor in pediatric Hematology & Oncology. Case Report Presentation. Chief complain:

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In The Name of God

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  1. In The Name of God

  2. Presentation of lytic bone lesions and severe bone pain as a first presentation of sickle thalassemia in a 9 year old girl Dr. A. Tamaddoni Associate professor in pediatric Hematology & Oncology

  3. Case Report Presentation • Chief complain: • A 9 year old girl with fever and severe generalized pain and neck stiffness and pain on her neck, chest and back admitted in Amirkola Children Hospital.

  4. Present illness • She had high grade fever from 2 wks ago • She had illness and pallor and generalized bone pain from 3 days ago. • No response to outpatient treatment.

  5. Previous history • No history of the same signs and symptoms • Her father is minor thalassemia • Her sister with 11 year old is normal • Mother explained she had no any hematological problem at the screening time of marriage.

  6. Clinical exam: • Fever • Neck rigidity and tenderness • Pallor • Splenomegaly (7-8 cm) • Pain (chest, neck, back pain) sever • Vomiting

  7. Lab Test • Hb= 7.6 g/dl • MCV= 67.7 • MCH= 21.3 • HCT= 24.1 • PPD Test= NL • U/A, U/C= NL • Wright, 2ME= Negative • Widal Test= Negative • L.P: Normal

  8. Imaging • Chest- X-Ray: Normal • Abdominal ultrasound: Splenomegaly • Spinal cord X-Ray: Multiple lytic lesions in vertebrae • Brain and total spinal cord MRI: • Multiple hyperdensity and lytic lesions on neck and dorsal and lumbar vertebrae • Whole body bone scan: • Increased uptake in multiple vertebrae

  9. Bone marrow Aspiration • Increased erythroid activity and some degrees of erythrodysplasia. • Otherwise normal marrow

  10. Hb electroplorasis for family • Hb electrophoresis of patient: • HbS= 57%, HbF= 39.9%, HbA2= 2.6% • Mother Hb electrophoresis: • HbA= 62.6% , HbS= 34.8% , HbA2= 2.6% • Father Hb electrophoresis: • HbA= 88%, HbA2= 5.5% , HbF= 6.5%

  11. Diagnosis • Sickle thalassemia

  12. Key Point • Prevention program at the screening time of couple marriage is important. • Specific prevention program by judgment of Hb electrophoresis in partner of a minor thalassemia must operate and judgment by RBC index not enough to diagnose heterozygote sickle.

  13. β-THALASSEMIA IN ASSOCIATION WITH β-CHAIN STRUCTURAL VARIANTS • Hemoglobin S Thalassemia Syndromes • The term sickle cell disease refers, not only to homozygous HbSS, but also to all genotypes in which HbS interacts with other globin gene mutations, including β°-thalassemia. β+-thalassemia. δβ - thalassemia. HPFH, and HbLepore.

  14. The clinical course of these phenotypes is extremely variable; however, the thalassemia gene is expressed with some degree of mtcrocytosis, hypochromia, and variation in the relative proportions of HbA2 and HbF. Sickling symptoms, if present, are often milder than those noted in patients with homozygous sickle cell anemia.

  15. Hemoglobin S- β –Thalassemia • The double heterozygous state for HbS and β -thalassemia is the most common variant of sickle cell disease in individuals of mediterranean ancestry and the second most common sickling disorder.

  16. In the U.S. it is estimated to affect about 1 in 1667 Americans at birth. HbS/ β°-thalassemia occurs approximately once in every 23,000 Afro-Americans and in Jamaica has a frequency of one in 6, 750.

  17. HbS/ β-thalassemia is clinically more similar to sickle cell disease than to thalassemia major or intermedia. The severity depends on the type of β-thalassemia mutation. Patients who inherit a β° gene are clinically indistinguishable from those with homozygous sickle cell anemia and have very low levels of HbA, while patients with β+ genes present milder phenotypes and may even be asymptomatic because of the higher levels of HbA.

  18. HematologicallyHbS/β –thalassemia presents with higher red blood cell counts and HbA2 levels and lower MCV and MCH values (mean 68 fl and 20 pg, respectively) compared to HbSS.

  19. The risk of stroke in patients with HbS/β°-thalassemia is considered high and therefore transcranial Doppler screening is recommended, as in homozygous HbSS.

  20. Complications of both diseases are frequently seen, including delayed growth and puberty, vaso-occlusive events, and acute chest syndrome.

  21. Splenomegaly is more common in patients with HbS/ β- thalassemia, compared to HbSS, and the spleen tends to remain enlarged and functional in adulthood. • As a consequence, several cases of fatal splenic sequestration have been reported in patients with HbS- β+ -thalasscmia.

  22. Avascular necrosis of the femoral head is more frequent and appears earlier in sickling disorders with higher hematocrits, like HbS/β+ -thalassemia.

  23. Proliferative sickle retinopathy also seems to be more common and severe in sickle-thalassemla than in homozygous HbSS.

  24. While antibiotic prophylaxis is highly recommended in HbSS and HbS/ β°-thalassemia, in patients with HbS/ β+ -thalassomia its use is controversial, because their splenic function is not usually impaired and they are not considered at high risk of having pneumococcal septicemia.

  25. Various phenotypes of sickle cell disease may have a milder course when associated with a concomitant ɑ-thalasssmiatrait as a result of a decrease in the MCHC, which lowers HbS polymer formation.

  26. Other genetic modifiers can influence the phenotype, as hypothesized on the basis of the discordance of symptoms in affected members of a single family.

  27. In particular, the relative amount of HbF plays an important role in disease severity. • Precise diagnosis is important to predict the clinical course and prognosis, and to perform correct genetic counseling.

  28. In HbS/β-thalassemia, HbS is the most abundant hemoglobin, HbA2 is increased, and HbF may be normal or variably increased. • HbA accounts for less than 30% of the total amount of hemoglobin in patients with β+ gene mutations, while it is virtually absent in HbS-β°-thalassemia.

  29. The electrophoretic picture of HbS/β+-thalassemia and sickle cell trait may be similar, but usually the relative proportions of HbS and HbA allow a correct diagnosis. • On the other hand HbS-β°-thalassemia and homozygous sickle cell anemia may be indistinguishable.

  30. Although consistently elevated by 1 year of age, HbA2 may be difficult to measure accurately with electrophoresis because of its proximity to the HbS band, and with HPLC because of co-elution of minor components with HbA2 (secondary to post-translational modifications of HbS.

  31. Thanks for your attention

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