Posted in Hematology, Hematopathology

HEMOPHILIA B LEYDEN- A rare form of FIX deficiency

HEMOPHILIA B LEYDEN is a rare form of FIX deficiency

Here are some key points to be noted regarding Hemophilia B Leyden.

  1. It is a rare form of FIX deficiency, hemophilia B Leyden, undergoes postpubertal phenotypic resolution.
  2. Patients with this condition present with hemophilia B in early childhood, with FIX activity ranging from less than 1% to 13% of normal.
  3. Plasma levels rise to as high as 70% of normal after the onset of puberty with resolution of bleeding complications.
  4. Mutations in hemophilia B Leyden have been identified in the promoter region of the FIX gene, within which a consensus sequence for steroid receptor binding is located.

REVIEW QUESTION- A QUESTION FROM DM HEMATOPATHOLOGY PGIMER ENTRANCE

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ANSWER is C: Steroid receptor is involved in the pathogenesis.

Posted in Hematology, Hematopathology, TEST YOUR KNOWLEDGE, WEEKLY QUIZZES

INHERITED PLATELET DISORDERS -QUIZ

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HEMOSTASIS AND THROMBOSIS -QUIZ

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Posted in Hematopathology, WEEKLY QUIZZES

B-Cell Lymphomas and Multiple Myeloma Hematopathology Mcqs

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Key points to remember in ALL t(5;14)
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Posted in Hematopathology

6 KEY POINTS TO REMEMBER IN ACUTE LYMPHOCYTIC LEUKEMIA (ALL) – t(5;14)

6 KEY POINTS TO REMEMBER FOR BOARDS – ACUTE LYMPHOCYTIC LEKUKEMIA- t(5;14)

  1. Basts harbour a translocation between IL3 and an IGH gene, resulting in variable eosinophilia
  2. This diagnosis can be made on the basis of immunophenotypic and genetic findings even if the bone marrow blast count is low.
  3. patients may present with an asymptomatic eosinophilia,
  4. Blasts may be deceptively absent in the peripheral blood.
  5. Eosinophils are a reactive popula­ tion and not part of the leukaemic clone.
  6. The prognosis is not considered to be different from that of other types of ALL

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