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10 Best Genetic Disorders doctors in Chembur East

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Questions & Answers on "Genetic Disorders" (255)

Dear Doctor, Due to my father's high blood viscosity, suspicion of polycythemia arises, necessitating blood draws every 3 weeks to maintain appropriate levels. At 69 years old, he experiences symptoms such as skin itching, swelling, head numbness, and fatigue. Currently, his JAK2 V617F mutation showed 0.8 then 1.2%, with JAK2 exon 12 negative and EPO at 13.4. Abdominal CT and chest X-ray are normal. After a few months of phlebotomy, his levels normalized. Now, we await the bone marrow biopsy results, which do not confirm Polycythemia Vera: "Microscopic description: The bone marrow biopsy sample shows somewhat hypocellular hematopoietic parenchyma relative to age, which is terminally mature. Myeloid ratio is 2:1 with dominance of late precursors; no blast cells are noted. The number of megakaryocytes is normal with no clustering. There is no interstitial fibrosis or lymphoid infiltrate. Diagnosis: Mature, hypocellular hematopoietic parenchyma without myeloproliferative features. Cytogenetic analysis confirmed male karyotype; no clonal chromosomal abnormalities detected. Indication for examination D7510 Secondary polycythemia Note Submicroscopic rearrangements, small structural chromosomal aberrations, DNA-level differences cannot be ruled out with the method used." I am quite confused as JAK2 positivity typically suggests PV, yet the biopsy suggests otherwise, possibly indicating secondary polycythemia. Could you please clarify based on this information what you personally think is more likely, Polycythemia Vera or another secondary cause? Thank you very much for your help.

Male | 67

Your father's symptoms and test results do suggest some complexity. The presence of JAK2 mutation often points towards Polycythemia Vera (PV), but the bone marrow biopsy does not show typical myeloproliferative features, suggesting it might be secondary polycythemia instead. Consult a hematologist, specializing in blood disorders, and can provide a more accurate diagnosis and appropriate treatment plan.

 

Answered on 3rd July '24

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My patlet -154000 MPV -14.2 Is it ok

Male | 39

A platele­t count below 150,000 is considered low. Plate­lets help the blood clot prope­rly. Low levels can cause bruising e­asily, bleeding, or tiny red spots calle­d petechiae. An MPV of 14.2 is slightly be­low normal too. This could happen due to infections, me­dications, or medical issues. It's crucial to talk to your doctor about these­ results. They'll check furthe­r and recommend the right tre­atment.

Answered on 5th Sept '24

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Dear Doctor, today my son under went routine blood and urine test. Most of the parameters are normal except RDW-CV which shows 14.3 %. Normal range as shown i the report is 11.6 - 14.0. Is it serious ? What precautions can be take ?

Male | 30

RDW-CV is a measure of the variation in the size of red blood cells. An increase in RDW-CV can be a sign of anemia or nutritional deficiencies. Fatigue, weakness, and paleness may be among the symptoms. To tackle this, ensure a balanced diet that is rich in iron and nutrients. Further assessment by a doctor may be helpful. 

Answered on 26th Aug '24

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