Patient Experience
A 28-year-old female competitive freediver from Antalya presented with unexplained episodes of syncope during deep dives. Initial workup elsewhere suggested cardiac issues, but Dr. Tombak identified a rare form of hemoglobinopathy (Hb Köln) that altered oxygen binding under extreme pressure. Treatment involved tailored hydration protocols and iron chelation therapy, allowing her to return to competitive diving with monitored depth limits within six months.
A 72-year-old retired copper mine foreman from the Taurus Mountains presented with severe pancytopenia and blue-green skin discoloration. Dr. Tombak diagnosed chronic copper poisoning mimicking myelodysplastic syndrome, traced to decades of drinking water from mine-adjacent springs. Treatment involved chelation therapy with D-penicillamine and environmental intervention. Full hematologic recovery took eighteen months, with his grandchildren now monitoring his water source.
A 19-year-old university student and amateur calligrapher developed progressive finger necrosis and microvascular thrombosis. Dr. Tombak diagnosed catastrophic antiphospholipid syndrome triggered by a novel acrylic ink solvent. Treatment combined plasma exchange, rituximab, and collaboration with a chemical engineer to reformulate the ink. The patient regained full hand function and now produces solvent-free artwork for medical awareness campaigns.
A 45-year-old Syrian refugee and former mosaic artist presented with refractory megaloblastic anemia unresponsive to standard B12/folate therapy. Dr. Tombak discovered a genetic defect in the transcobalamin II receptor combined with chronic Helicobacter pylori infection impairing intrinsic factor. Treatment involved intramuscular hydroxocobalamin, antibiotic therapy, and nutritional counseling using locally available foods. Her anemia resolved, and she now teaches art therapy at the refugee center.
An 8-year-old boy from a rural citrus-farming family presented with recurrent severe hemolytic crises coinciding with harvest seasons. Dr. Tombak diagnosed glucose-6-phosphate dehydrogenase deficiency triggered by exposure to naphthalene-based pesticide storage bags. Intervention involved replacing storage materials and educating the community. The child has been crisis-free for two years and helps distribute safer storage alternatives.
A 33-year-old pregnant woman in her third trimester presented with acquired hemophilia A following a routine vaccination. Dr. Tombak managed her with recombinant factor VIIa during delivery, coordinating with obstetrics for a controlled cesarean section. Postpartum, she received immunosuppressive therapy. Both mother and baby recovered fully, with Dr. Tombak publishing the case to highlight this rare temporal association.
A 61-year-old former shipyard welder presented with myelofibrosis and unusual cadmium levels in bone marrow biopsy. Dr. Tombak linked this to decades of welding galvanized steel in enclosed spaces without protection. Treatment involved ruxolitinib and rigorous heavy metal detoxification. The patient's symptoms improved significantly, and he now advocates for workplace safety regulations in small shipyards.
A 27-year-old professional weightlifter presented with unexplained erythrocytosis and thrombotic events. Dr. Tombak identified autonomous erythropoietin production from a previously undetected renal cyst, exacerbated by testosterone supplementation. Treatment involved cyst aspiration, discontinuation of supplements, and therapeutic phlebotomy. The athlete returned to competition in a lower weight class after nine months, with normalized hematocrit.
A 3-year-old girl from a consanguineous family presented with recurrent infections and neutropenia. Dr. Tombak diagnosed a novel ELANE gene mutation causing cyclic neutropenia with an unusually short 14-day cycle. Treatment with G-CSF was timed precisely to her cycle, dramatically reducing infections. Her family was enrolled in a genetic registry studying this mutation's regional prevalence.
A 50-year-old woman who collected antique pottery presented with lead poisoning masquerading as sideroblastic anemia. Dr. Tombak traced the source to leaching from improperly glazed 19th-century teacups used daily. Treatment involved chelation therapy and collector education. Her anemia resolved completely, and she now tests all her antiques, consulting with Dr. Tombak on unusual cases.
A 70-year-old retired physics professor presented with Waldenström macroglobulinemia that had become refractory to all standard therapies. Dr. Tombak designed a personalized regimen combining ibrutinib with low-dose radiation targeted to dominant bone lesions identified by novel PET imaging. The patient achieved partial remission and continues to collaborate with Dr. Tombak on modeling treatment response kinetics.
A 22-year-old medical student presented with immune thrombocytopenia purpura that manifested only during final examination periods. Dr. Tombak identified extreme stress-induced platelet autoantibody production via catecholamine-mediated immune modulation. Treatment involved beta-blockers and cognitive behavioral therapy instead of steroids. The student completed studies with normal platelet counts and is now pursuing hematology.
A 5-year-old boy with Diamond-Blackfan anemia, adopted internationally, presented with iron overload from years of unnecessary transfusions. Dr. Tombak implemented a transfusion-independent regimen using L-leucine supplementation and careful monitoring, reversing some iron accumulation through natural processes. The child's growth improved dramatically, and his adoptive family became advocates for specialized second opinions.
A 38-year-old deep-sea fisherman presented with cold agglutinin disease triggered by persistent norovirus infection from shipboard outbreaks. Dr. Tombak treated the underlying infection with antivirals while managing hemolysis with complement inhibition. The patient recovered fully and implemented new sanitation protocols on his vessel, eliminating recurrent outbreaks among the crew.