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10 Best Genetic Disorders doctors in Narsingi

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Questions & Answers on "Genetic Disorders" (255)

Answered on 22nd Nov '24

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compression the small blood vessels in appendix can increase the RBC

Female | 20

Doing this can cause more red blood cells to form. You may get pain in your lower right belly, have a fever, and not want to eat. It can be due to something blocking it or an infection. A doctor may suggest taking it out with an operation called appendectomy.

Answered on 23rd May '24

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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 son,s Cbc report findings Hb 14.3 11.5-14.5 reference range Hct 43. 33- to 43 RBC 5.5 % 4 to 5.3 Mcv 78. 76 to 90 Mch 26 25 to 31 Mchc 34. 30 to 35 Rdw-cv 13.5. 11.5 to 14.5 Rbc elevated Is there anything wrong? He had occasional headaches. Please help me

Male | 10

Based on the CBC report for your son, it reads that his red blood cell count is elevated. Sometimes, this leads to headaches. The other test results yield normal values, which is a positive thing! In my opinion, a doctor's consultation is necessary to delve more into the issue of an elevated RBC count and the occasional headaches, ensuring that the child receives proper treatment.

Answered on 12th Sept '24

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Answered on 13th Feb '25

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