8p11 myeloproliferative syndrome (EMS; also known as the stem cell leukemia syndrome-SCLL) is a rare atypical myeloproliferative disorder associated with chromosomal abnormalities involving the 8p11 chromosomal band. Translocations associated with this syndrome result in the fusion of the fibroblast growth factor receptor 1 (FGFR 1) gene with various partners, resulting in ligand independent FGFR activity. The most commonly observed translocation of this syndrome is t(8;13), which results in the expression of a chimeric ZNF198-FGFR1 tyrosine kinase. Disease phenotype associated with this translocation has some typical features such as poor prognosis, and transformation to mainly acute leukemia and non-Hodgkin lymphoma; commonly with a T-cell phenotype in which obtaining and maintenance of remission is difficult by conventional chemotherapy. We hereby present a case diagnosed as atypical chronic myeloproliferative disease with consistent t(8;13)(p12;q12) and transformed rapidly to pre-B-cell acute lymphoblastic leukemia which is a rare clinical presentation.

We report a new hemoglobin (Hb) variant [β86(F2)Ala→Val; HBB:c.260C>T] that we have named Hb Izmir. We have identified Hb Izmir in a Turkish woman by ion exchange high performance liquid chromatography (HPLC) during a premarital screening program in the Aegean region of Turkey. The mother and sister of the proband also carried the same variant. Using direct sequencing, we have characterized this variant as resulting from a GCC>GTC replacement at codon 86 of the β-globin chain, corresponding to an Ala→Val amino acid substitution. In the heterozygote, the level of Hb Izmir ranged from 41.38 to 45.6%. All heterozygotes had a Hb A(2) level of less than 3.5%. Total blood count values were normal and there were no other clinical findings. Although its clinical significance is thus far unclear, Hb Izmir may be important in hemoglobinopathy screening programs.

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