Study of the Relationship between HPA-1 and HPA-5 Gene Polymorphisms and Refractory to Platelet Therapy and Recombinant Factor VII in Glanzmann Thrombasthenia Patients in Southeast of Iran.

Background: Glanzmann Thrombasthenia (GT) is a rare autosomal disease. HPA (Human Platelet Alloantigen) is a surface polymorphic alloantigen of platelets. This study was intended to investigate and compare the polymorphism of HPA-1 and HPA-5 genes in two groups of GT patients, with and without resistance to platelet and recombinant factor VII therapy. Materials and Methods: This case control study was performed on GT patients (n=16) with resistance to platelet therapy and recombinant factor VII and control group of GT patients (n=16) without resistance to platelet therapy and recombinant factor VII. The consent form was completed by each patient. Gene polymorphisms of HPA-1 and HPA-5 were investigated using SSP-PCR, and the obtained data were analyzed using statistical software SPSS16.0. Results: The results indicated no significant relationship between the studied genes and their resistance to platelet therapy and recombinant factor VII. The frequencies of HPA-1 genotype a/a were 98% and 94% in patient and control groups, respectively. The frequency of allele b was found to be less than allele a. The value of this allele was 4% in patient group and 1% in control group. In addition, the HPA-5a/a (98%) was the most frequent alloantigen?? (check it) in both groups. Seven percent (7%) of the patients had the HPA-5a/b genotype, and the HPA-5b/b was found to be absent in these individuals. Conclusion: According to the results obtained, it could be concluded that these genes play no role in resistance to platelet therapy.

Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregnant woman with polycythemia vera.

In 2007, a 27-year-old woman presented with mild splenomegaly. Blood counts showed hemoglobin (Hb): 17.8 g/dl, HCT: 56% and Red blood cells: 6.45×10(12)/L. Bone marrow examination disclosed a hypercellular marrow. Molecular analysis showed the presence of the JAK2 V617F mutation and BCR-ABL/BCR mRNA b3a2 transcript. A diagnosis of BCR-ABL-positive polycythemia vera (PV) was made. In 2009, she had nulipar pregnancy and treated with interferon-alpha. She delivered a healthy girl infant at 37 weeks. This case report suggests that in a PV pregnant woman with a concomitant presence of JAK2 V617F mutation and BCR-ABL translocation, the administration of interferon during the pregnancy could lead to a safe pregnancy and delivery.