Causes and risk factors
Bone marrow is a soft tissue inside the bone which forms blood stems cells that develop into blood cells. Blood stem cells either develop into lymphoid stem cells or myeloid stem cells. Lymphoid stem cells develop into WBCs while myeloid stem cells develops into all 3 cells namely RBCs, WBCs, and platelets. In myelodysplastic syndrome, when stem cells do not develop into RBCs, it gives rise to anemia called as ‘refractory anemia.’ The condition may be seen after cytotoxic chemotherapy – especially for Hodgkin’s disease. Despite the presence of adequate numbers of blood forming cells [hematopoietic cell], “ineffective hematopoiesis” occurs, resulting in various cytopenias. Frequently abnormalities involving the long arm of chromosome 5 as well as deletions of chromosomes 5 and 7 result into the disease.
Clinical presentation
Patients are usually above 60 years of age. Many patients are asymptomatic because of the finding of abnormal blood count can be ascertained only after a blood test. Symptoms of anemia like headache, dizziness, malaise, and pallor are seen. Patient experiences bone pain, palpitations, irregular heart rate, fatigue on least exertion, and shortness of breath. Unexplained hemorrhages, petechiae, easy bruising, and repeated infections are observed. There is abdominal fullness due to enlargement of spleen. Refractory anemia may present in 3 forms in myelodysplastic syndromes – refractory anemia [with less RBCs, normal platelets and WBC], refractory anemia with ring sideroblasts [less RBCs and RBCs have too much iron inside the cells], refractory anemia with excess blasts [less RBCs; 5% to 19% are blasts cells in bone marrow, changes in WBC and platelets].
Investigation
Medical history by the patient and clinical examination by the doctor helps in diagnosis. Blood tests such as CBC is recommended. PBS (peripheral blood smear) is advised. Cytogenetic analysis is required. Blood biochemistry studies are done to detect nutritional deficiency. Bone marrow aspiration and biopsy, lumbar puncture is advised. Imaging studies such as USG, CT scan, MRI, PET scan may be useful for further evaluation. Genetic testing confirms the diagnosis.
Treatment
Blood transfusion is needed to correct anemia. Treatment includes chemotherapy which consists of 3 phases – remission induction, consolidation, and maintenance therapy. Radiation therapy, targeted drug therapy may be required. Stem cell transplant and bone marrow transplant are found to be effective in treating the disease. In case of severe spleenomegaly, spleenectomy will help in managing the condition.
Other Modes of treatment
The other modes of treatment can also be effective in treating refractory anemia. Homoeopathy is a science which deals with individualization and considers a person in a holistic way. This science can be helpful in combating the symptoms. Similarly, the ayurvedic system of medicine which uses herbal medicines and synthetic derivates are also found to be effective in treating refractory anemia.
