PRADYUMMA PHATAK

Summary

Affiliation: Rochester General Hospital
Country: USA

Publications

  1. ncbi request reprint Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients
    Pradyumna D Phatak
    Rochester General Hospital, 1425 Portland Avenue, Rochester, NY 14621, USA
    Blood Cells Mol Dis 29:41-7. 2002
  2. ncbi request reprint Association of heterozygous hemochromatosis C282Y gene mutation with hand osteoarthritis
    James M Ross
    Department of Medicine at the University of Rochester School of Medicine and Dentistry, Rochester, New York, USA
    J Rheumatol 30:121-5. 2003
  3. ncbi request reprint Serum ferritin level predicts advanced hepatic fibrosis among U.S. patients with phenotypic hemochromatosis
    Elizabeth D Morrison
    University of Washington, Seattle, Washington 98195, USA
    Ann Intern Med 138:627-33. 2003
  4. ncbi request reprint Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features
    Ronald L Sham
    Hematology Oncology Division, Rochester General Hospital, Mary M Gooley Hemophilia Center, 1425 Portland Avenue, Rochester, NY 14621, USA
    Blood Cells Mol Dis 34:157-61. 2005
  5. pmc Serum ferritin concentrations and body iron stores in a multicenter, multiethnic primary-care population
    Victor R Gordeuk
    Department of Medicine and Center for Sickle Cell Disease, Howard University, Washington, District of Columbia 20060, USA
    Am J Hematol 83:618-26. 2008
  6. ncbi request reprint Hereditary hemochromatosis: time for targeted screening
    Pradyumna D Phatak
    Rochester General Hospital, 1425 Portland Avenue, Rochester, NY 14621, USA
    Ann Intern Med 149:270-2. 2008

Research Grants

Collaborators

Detail Information

Publications6

  1. ncbi request reprint Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients
    Pradyumna D Phatak
    Rochester General Hospital, 1425 Portland Avenue, Rochester, NY 14621, USA
    Blood Cells Mol Dis 29:41-7. 2002
    ..TS screening would detect most C282Y homozygotes but not the other two genotypes. The penetrance of C282Y/C282Y is significant. The biochemical penetrance of H63D/H63D and C282Y/H63D is modest and the clinical penetrance is low...
  2. ncbi request reprint Association of heterozygous hemochromatosis C282Y gene mutation with hand osteoarthritis
    James M Ross
    Department of Medicine at the University of Rochester School of Medicine and Dentistry, Rochester, New York, USA
    J Rheumatol 30:121-5. 2003
    ..To determine if there is an association between radiographic osteoarthritis (OA) of the hand and the presence of hemochromatosis HFE gene mutations...
  3. ncbi request reprint Serum ferritin level predicts advanced hepatic fibrosis among U.S. patients with phenotypic hemochromatosis
    Elizabeth D Morrison
    University of Washington, Seattle, Washington 98195, USA
    Ann Intern Med 138:627-33. 2003
    ..DNA-based HFE gene testing can confirm hereditary hemochromatosis in most people of Northern European descent. However, liver biopsy is important to detect cirrhosis...
  4. ncbi request reprint Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features
    Ronald L Sham
    Hematology Oncology Division, Rochester General Hospital, Mary M Gooley Hemophilia Center, 1425 Portland Avenue, Rochester, NY 14621, USA
    Blood Cells Mol Dis 34:157-61. 2005
    ..The disease in this family is notable for young age at onset, elevated transferrin saturation values, and hepatocyte iron deposition. The distinct molecular and clinical features reflect the heterogeneous nature of this disease...
  5. pmc Serum ferritin concentrations and body iron stores in a multicenter, multiethnic primary-care population
    Victor R Gordeuk
    Department of Medicine and Center for Sickle Cell Disease, Howard University, Washington, District of Columbia 20060, USA
    Am J Hematol 83:618-26. 2008
    ..Serum ferritin >900 microg/L in male C282Y homozygotes is predictive of moderately increased iron stores...
  6. ncbi request reprint Hereditary hemochromatosis: time for targeted screening
    Pradyumna D Phatak
    Rochester General Hospital, 1425 Portland Avenue, Rochester, NY 14621, USA
    Ann Intern Med 149:270-2. 2008
    ..In this article, the authors draw attention again to hereditary hemochromatosis as a cause of preventable organ dysfunction and propose targeted case finding for Caucasian men of Northern European ancestry...

Research Grants5

  1. HEMOCHROMATOSIS--GENETIC PREVALENCE AND PENETRANCE
    PRADYUMMA PHATAK; Fiscal Year: 2002
    ..These questions have recently been identified as a priority by the Centers for Disease Control and Prevention and by the National Heart Lung and Blood Insitute. ..
  2. Achieving Iron Balance in Men & Women with Hemochromatosis
    PRADYUMMA PHATAK; Fiscal Year: 2006
    ....