Ann Lab Med.  2020 Jul;40(4):341-344. 10.3343/alm.2020.40.4.341.

Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea

• Jung N
• Kim DH
• Ha JS
• Shim YJ

• KMID: 2470334
• DOI: http://doi.org/10.3343/alm.2020.40.4.341

Abstract

No abstract available.

MeSH Terms

Exome*
Korea*
Thrombocytosis*

Figure

• 

  Fig. 1 Clinical features of the thrombocythemia 1 patient. (A) Constricted left hand. (B) Radiographs showing the limb defects of his left hand (missing distal phalanges at digits 2–5) and his normal right hand. (C) Change in the CBC over time. (D) Bone marrow aspirate showing increased megakaryocytes in active form (Wright-Giemsa stain, ×100). (E) Sanger sequencing of THPO in the patients and family members. The red square indicates the position of NM_000460.2: c.13+1G. (F) Pedigree of the family with thrombocythemia 1 and laboratory results. The patient is indicated with an arrow. The filled symbols represent individuals with THPO gene variant. Open symbols represent normal individuals. The individuals are indicated above the corresponding lanes. Age, CBC, serum THPO level (reference value, 7 – 99 pg/mL), and THPO variant are shown. Abbreviations: CBC, complete blood count; THPO, thrombopoietin; F, forward strand; R, reverse strand; Hb, hemoglobin; WBC, white blood cells; PLT, platelets.

Reference

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