Atypical Presentation of Beta-Thalassemia Trait with Heterozygous H63D Mutation: Hemolysis, Iron Overload, and Liver Cirrhosis

被引：0
|
作者：
Pipaliya, Meetkumar V. [1 ]
Prajapati, Ritesh [2 ]
Patel, Mipasha [1 ]
Sardhara, Litinkumar V. [1 ]
机构：
[1] Govt Med Coll & Hosp, Surat, Gujarat, India
[2] SIDS Hosp & Res Ctr, Surat, Gujarat, India
来源：
AMERICAN JOURNAL OF GASTROENTEROLOGY | 2024年 / 119卷 / 10S期
关键词：
D O I：
10.14309/01.ajg.0001046840.19107.a9
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
S4368
引用
收藏
页码：S2799 / S2800
页数：2
相关论文
共 50 条
  • [21] Metastatic carcinomatous cirrhosis and hepatic hemosiderosis in a patient heterozygous for the H63D genotype
    Mitchell, ML
    Filippone, MD
    Wozniak, TF
    ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE, 2001, 125 (08) : 1084 - 1087
  • [22] HFE mutations frequency and the role of H63D mutation on iron overload in a blood donors population in Italy
    不详
    VOX SANGUINIS, 2005, 89 : 208 - 208
  • [23] Phenotypic expression of iron overload in 50 H63D homozygotes.
    Aguilar-Martinez, P
    Bismuth, M
    Blanc, P
    Larrey, D
    Schved, JF
    BLOOD, 1999, 94 (10) : 404A - 404A
  • [24] HEREDITARY HEMOCHROMATOSIS: ROLE OF H63D HOMOZYGOSITY IN HEPATIC IRON OVERLOAD
    Martin Mateos, R. M.
    Graus Morales, J.
    Rey Zamora, D.
    Moreira Vicente, V. F.
    Albillos, A.
    Boixeda de Miquel, D.
    JOURNAL OF HEPATOLOGY, 2015, 62 : S819 - S820
  • [25] H63D homozygotes with hyperferritinaemia:: is this genotype, the primary cause of iron overload?
    de Diego, Carles
    Opazo, Sonsoles
    Murga, Maria J.
    Martinez-Castro, Pedro
    EUROPEAN JOURNAL OF HAEMATOLOGY, 2007, 78 (01) : 66 - 71
  • [26] Does HFE H63D gene polymorphism has an effect on blood iron, lead and cadmium levels of Turkish beta-thalassemia major patients?
    Kayaalti, Z.
    Soylemez, D.
    Akyuzlu, D. Kaya
    Ozdemir, F.
    Yuksel, B.
    Soylemezoglu, T.
    TOXICOLOGY LETTERS, 2016, 258 : S194 - S194
  • [27] Hemochromatosis in a β-thalassemia minor patient with H63D homozygous mutation: A case report
    Pokhrel, Nishan Babu
    Khanal, Shambhu
    Chapagain, Parikshit
    Pokhrel, Biraj
    Shrestha, Anjan
    CLINICAL CASE REPORTS, 2020, 8 (12): : 2341 - 2345
  • [28] Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gene may lead into severe iron overload in β-thalassemia minor:: Observations in a thalassemic kindred.
    Ruiz-Argüelles, GJ
    Garcés-Eisele, J
    Reyes-Núñez, V
    Sánchez-Anzaldo, J
    Ruiz-Delgado, GJ
    Jiménez-González, C
    Carrera, B
    REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION, 2001, 53 (02): : 117 - 120
  • [29] DEVELOPMENT OF IRON OVERLOAD IN PATIENTS WITH SMD AND RINGED SIDEROBLASTS. ROLE OF THE H63D MUTATION OF THE HFE GENE
    Ivars Santacreu, D.
    Orero Castello, M. T.
    Villegas Da Ros, C.
    Ortiz Zuluaga, S.
    Javier Gonzalez, K.
    Egea Rico, M.
    Carbonell Ramon, F.
    Collado Nieto, R.
    HAEMATOLOGICA, 2015, 100 : 186 - 186
  • [30] Comparison between H63D and G71D gene mutation effects on iron overload in Iraqi patients with β-thalassemia major: A case-control study
    Maatooq, Samar Adnan
    Alwash, Maysem Mouayad
    Ahmed, Abeer Anwer
    IRAQI JOURNAL OF HEMATOLOGY, 2022, 11 (01) : 60 - 64
12345