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Editor-in-Chief: Giuseppe Leone | Italy

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  • EPIDEMIOLOGY OF PROTHROMBIN G20210A MUTATION IN THE MEDITERRANEAN REGION

    Mehrez M. Jadaon
    e2011054
    2011-11-28
    https://doi.org/10.4084/mjhid.2011.054
    2664
    PDF: 1115
    HTML: 2786
  • EPIDEMIOLOGY OF ACTIVATED PROTEIN C RESISTANCE AND FACTOR V LEIDEN MUTATION IN THE MEDITERRANEAN REGION

    Mehrez Mehrez M. Jadaon
    e2011037
    2011-09-08
    https://doi.org/10.4084/mjhid.2011.037
    3085
    PDF: 792
    HTML: 12889
  • MUTATIONAL PROFILES OF F8 AND F9 IN A COHORT OF HAEMOPHILIA A AND HAEMOPHILIA B PATIENTS IN THE MULTI-ETHNIC MALAYSIAN POPULATION

    Maimiza Zahari, Siti Aishah Sulaiman, Zulhabri Othman, Yasmin Ayob, Faraizah Abd Karim, Rahman Jamal
    e2018056
    2018-09-01
    https://doi.org/10.4084/mjhid.2018.056
    1993
    PDF: 1046
    HTML: 686
    Figure 1: 148
    Figure 2: 161
  • TP53-MUTATED MYELODYSPLASIA AND ACUTE MYELOID LEUKEMIA TP53 in MDS and AML

    Ugo Testa, Dr. Germana Castelli, Dr. Elvira Pelosi
    e2023038
    2023-06-29
    https://doi.org/10.4084/MJHID.2023.038
    2040
    PDF: 1643
    HTML: 356
  • GENETIC PREDISPOSITION TO HEMATOLOGIC MALIGNANCIES IN CHILDHOOD AND ADOLESCENCE

    Francesco Fabozzi, Angela Mastronuzzi
    e2023032
    2023-04-28
    https://doi.org/10.4084/MJHID.2023.032
    1875
    PDF: 494
    HTML: 521
  • CLONAL HEMATOPOIESIS: ROLE IN HEMATOLOGIC NON-HEMATOLOGIC MALIGNANCIES CLONAL HEMATOPOIESIS AND MALIGNANCIES

    Ugo Testa, Dr. Germana Castelli, Dr. Elvira Pelosi
    e2022069
    2022-08-27
    https://doi.org/10.4084/MJHID.2022.069
    2865
    PDF: 867
    HTML: 1479
  • Idiopathic pulmonary embolism in a case of severe family ANKRD26 thrombocytopenia

    Jérôme Guison, Gilles Blaison, Oana Stoica, Remy Hurstel, Marie Favier, Remi Favier
    e2017038
    2017-06-16
    https://doi.org/10.4084/mjhid.2017.038
    2109
    PDF: 822
    HTML: 915
    Patient’s family tree: 160
  • GENETIC HETEROGENEITY OF BETA GLOBIN MUTATIONS AMONG ASIAN-INDIANS AND IMPORTANCE IN GENETIC COUNSELLING AND DIAGNOSIS

    Ravindra Kumar, Kritanjali Singh, Inusha Panigrahi, Sarita Agarwal
    e2013003
    2013-01-01
    https://doi.org/10.4084/mjhid.2013.003
    1723
    PDF: 1275
    HTML: 11468
    Figure1: 166
    Figure 2: 168
  • SYSTEMIC MASTOCYTOSIS: MOLECULAR LANDSCAPE AND IMPLICATIONS FOR TREATMENT

    Cecilia Monaldi, Sara De Santis, Manuela Mancini, Samantha Bruno, Michele Cavo, Simona Soverini
    e2021046
    2021-06-28
    https://doi.org/10.4084/MJHID.2021.046
    1355
    PDF: 644
    HTML: 237
  • THE SPECTRUM OF GENETIC DEFECTS IN CHRONIC LYMPHOCYTIC LEUKEMIA

    Davide Rossi, Marco Fangazio, Gianluca Gaidano
    e2012076
    2012-11-13
    https://doi.org/10.4084/mjhid.2012.076
    2207
    PDF: 870
    HTML: 1989
    Fig 1 Rossi: 170
  • ?-THALASSEMIA DISTRIBUTION IN THE OLD WORLD: A HISTORICAL STANDPOINT OF AN ANCIENT DISEASE

    Vincenzo De Sanctis
    e2017018
    2017-02-20
    https://doi.org/10.4084/mjhid.2017.018
    10956
    PDF: 4291
    HTML: 4328
  • THE CLINICAL SIGNIFICANCE OF THE SPECTRUM OF INTERACTIONS OF THE RARE IVS-II-5 G>C (HBB: C.315+5 G>C) VARIATION WITH OTHER Β-THALASSEMIA MUTATIONS IN SOUTHERN CHINA

    Yali Zhou, Guiping Liao, Xiaolin Yin, Sheng He, Yi Wu, Jian Xiao, Zhili Geng, Qiuying Huang, Ganghui Luo, Kun Yang
    e2022034
    2022-04-28
    https://doi.org/10.4084/MJHID.2022.034
    880
    PDF: 501
    HTML: 298
  • ASSOCIATION OF MYCOBACTERIUM TUBERCULOSIS LINEAGES WITH IFN-? AND TNF-? GENE POLYMORPHISMS AMONG PULMONARY TUBERCULOSIS PATIENT

    Mohammad Varahram, Parissa Farnia, Mohammad Javad Nasiri, Mona Afraei Karahrudi, Mehdi Kazampour, Ali Akbar Velayati
    e2014015
    2014-02-16
    https://doi.org/10.4084/mjhid.2014.015
    1550
    PDF: 922
    HTML: 2213
  • GENETIC PATHWAYS LEADING TO THERAPY-RELATED MYELOID NEOPLASMS

    Angela Stoddart, Megan E. McNerney, Elizabeth Bartom, Rachel Bergerson, David J. Young, Zhijian Qian, Jianghong Wang, Anthony A. Fernald, Elizabeth M. Davis, Richard A. Larson, Kevin P. White, Michelle M. Le Beau
    e2011019
    2011-05-16
    https://doi.org/10.4084/mjhid.2011.019
    2547
    PDF: 793
    HTML: 5199
  • NPM1 MUTATED, BCR-ABL1 POSITIVE MYELOID NEOPLASMS: REVIEW OF LITERATURE NPM1 mutated, BCR-ABL1 positive myeloid neoplasms

    Gianfranco Catalano, Pasquale Niscola, Cristina Banella, Daniela Diverio, Malgorzata Monika Trawinska , Stefano Fratoni, Rita Iazzoni, Paolo de Fabritiis, Elisabetta abruzzese, Nelida Ines Noguera
    e2020083
    2020-10-27
    https://doi.org/10.4084/mjhid.2020.083
    1603
    PDF: 1163
    HTML: 188
  • PRENATAL DIAGNOSIS OF ?-THALASSEMIAS AND HEMOGLOBINOPATHIES

    Maria Cristina Rosatelli, Luisella Saba
    e2009011
    2009-11-15
    1172
    PDF: 369
    HTML: 6349
  • BETA-GLOBIN GENE MUTATIONS IN TURKISH CHILDREN WITH BETA-THALASSEMIA: RESULTS FROM A SINGLE CENTER STUDY

    Ali Fettah, Cengiz Bayram, Nese Yarali, Pamir Isik, Abdurrahman Kara, Vildan Culha, Bahattin Tunc
    e2013055
    2013-09-02
    https://doi.org/10.4084/mjhid.2013.055
    1603
    PDF: 680
    HTML: 1618
    Beta-globin Gene Mutations in Turkish Children with Beta-Thalassemia: Results from a Single Center Study: 180
  • PROGNOSTIC SIGNIFICANCE OF NRAS GENE MUTATIONS IN CHILDREN WITH ACUTE MYELOGENOUS LEUKEMIA

    Rabab Aly, Mohamed R. El-sharnoby, Adel A. Hagag
    e2011055
    2011-11-28
    https://doi.org/10.4084/mjhid.2011.055
    1832
    PDF: 746
    HTML: 1499
  • DETECTION OF CALR MUTATIONS USING HIGH RESOLUTION MELTING CURVE ANALYSIS (HRM-A); APPLICATION ON A LARGE COHORT OF GREEK ET AND MF PATIENTS

    Andreas Giannopoulos, Niki Rougkala, Theodoros Loupis, Marina Mantzourani, Nora-Athina Viniou, Eleni Variami, Theodoros Vassilakopoulos, George Dryllis, Ioannis Kotsianidis, Theodora Gougopoulou, Marianna Politou, Konstantinos Konstantopoulos, George Vassilopoulos
    e2019009
    2019-01-01
    https://doi.org/10.4084/mjhid.2019.009
    2923
    PDF: 1192
    HTML: 512
  • PREVALENCE OF ß-THALASSEMIA MUTATIONS AMONG NORTHEASTERN IRANIAN POPULATION AND THEIR IMPACTS ON HEMATOLOGICAL INDICES AND APPLICATION OF PRENATAL DIAGNOSIS, A SEVEN-YEARS STUDY

    Mohammad Ehsan Jaripour, Kourosh Hayatigolkhatmi, Vahid Iranmanesh, Farhad Khadivi Zand, Zahra Badiei, Hamid Farhangi, Ali Ghasemi, Abdollah Banihashem, Reza Jafarzadeh Esfehani, Ariane Sadr-Nabavi
    e2018042
    2018-07-01
    https://doi.org/10.4084/mjhid.2018.042
    2354
    PDF: 927
    HTML: 370
    Supplementary table 1: 212
    Some of the mutation detection samples: 205
  • SEQUENCE ANALYSIS OF HOT SPOT REGIONS OF SPIKE AND RNA‑DEPENDENT‑RNA POLYMERASE (RDRP) GENES OF SARS-COV-2 IN KERMAN, IRAN

    Nasir, Ramin, Amin, Jamal
    e2023042
    2023-06-29
    https://doi.org/10.4084/MJHID.2023.042
    801
    PDF: 709
    HTML: 186
  • SICKLE CELL DISEASE AND VENOUS THROMBOEMBOLISM

    Zohreh Rahimi, Abbas Parsian
    e2011024
    2011-05-23
    https://doi.org/10.4084/mjhid.2011.024
    2211
    PDF: 857
    HTML: 2080
  • “IDENTIFYING HIGH-RISK CHRONIC LYMPHOCYTIC LEUKEMIA: A PATHOGENESIS-ORIENTED APPRAISAL OF PROGNOSTIC AND PREDICTIVE FACTORS IN PATIENTS TREATED WITH CHEMOTHERAPY WITH OR WITHOUT IMMUNOTHERAPY.”

    Sara Martinelli, Antonio Cuneo, Gian Matteo Rigolin
    e2016047
    2016-10-15
    https://doi.org/10.4084/mjhid.2016.047
    3974
    PDF: 1032
    HTML: 3571
    Untitled: 171
    Cneo. Fig.1: 107
    Untitled: 97
    Untitled: 122
    Untitled: 125
  • COMPREHENSIVE REVIEW OF GENETIC AND EPIGENETICS REGULATION OF FETAL HEMOGLOBIN IN β-HEMOGLOBINOPATHIES: FROM MOLECULAR MECHANISMS TO CLINICAL APPLICATIONS HbF Genetics in Anemia

    Yousef Saeed Mohammad Abu Za’ror, Joseph Bagi Suleiman, Fatima Azzahra Delmani, Jehad Farouq Alhmoud, Amer Mohammad Ayasreh, Sarah Ihsan Al-wendawi, Maryam Azlan
    e2026046
    2026-04-30
    https://doi.org/10.4084/MJHID.2026.046
    222
    PDF: 166
    HTML: 10
  • RECENT ADVANCES IN THE DEFINITION OF THE MOLECULAR ALTERATIONS OCCURRING IN MULTIPLE MYELOMA MOLECULAR ALTERATIONS OCCURRING IN MM

    Ugo Testa, Elvira Pelosi, Germana Castelli, Giuseppe Leone
    e2023062
    2024-06-29
    https://doi.org/10.4084/MJHID.2024.062
    1155
    PDF: 1042
    HTML: 182
  • SPLANCHNIC VEIN THROMBOSIS IN THE MEDITERRANEAN AREA IN CHILDREN

    Hanaa El-Karaksy, Mona El-Raziky
    e2011027
    2011-07-08
    https://doi.org/10.4084/mjhid.2011.027
    2134
    PDF: 913
    HTML: 1623
  • NOVEL MUTATIONS IN THE NON-STRUCTURE PROTEIN 2 OF SARS-CoV-2 Sequence analysis NSP2 of SARS-CoV-2

    Mohsen Nakhaei, Zohreh-Al-Sadat Ghoreshi, Mohammad Rezaei Zadeh Rukerd, Hedyeh Askarpour, Nasir
    e2023059
    2023-10-16
    https://doi.org/10.4084/MJHID.2023.059
    899
    PDF: 451
    HTML: 105
  • COEXISTENCE OF MULTIPLE GENE VARIANTS IN SOME PATIENTS WITH ERYTHROCYTOSES Multiple gene variants in erythrocytosis

    Andrea Benetti, Irene Bertozzi, PhD, MD, Giulio Ceolotto, Irene Cortella, Daniela Regazzo, Giacomo Biagetti, Elisabetta Cosi, Maria Luigia Randi, MD, Prof
    e2024021
    2024-02-29
    https://doi.org/10.4084/MJHID.2024.021
    804
    PDF: 1217
    HTML: 123
  • BRUTON’S TYROSINE KINASE (BTK) MUTATIONS IN CHRONIC LYMPHOCYTIC LEUKEMIA (CLL): A CLINICAL VIEW.

    Stefano Molica
    e2025053
    2025-06-29
    https://doi.org/10.4084/MJHID.2025.053
    1489
    PDF: 870
    HTML: 104
  • WALDENSTROM’S MACROGLOBULINEMIA: AN UPDATE

    Maddalena Mazzucchelli, Anna Maria Frustaci, Marina Deodato, Roberto Cairoli, Alessandra Tedeschi
    e2018004
    2018-01-01
    https://doi.org/10.4084/mjhid.2018.004
    7369
    PDF: 2393
    HTML: 1713
    Table 1.: 198
    Table 2.: 211
    Table 3.: 191
    Table 4.: 190
  • WALDENSTRÖM MACROGLOBULINEMIA - A STATE-OF-THE-ART REVIEW: PART 1: EPIDEMIOLOGY, PATHOGENESIS, CLINICOPATHOLOGIC CHARACTERISTICS, DIFFERENTIAL DIAGNOSIS, RISK STRATIFICATION, AND CLINICAL PROBLEMS

    Michele Bibas, Shayna Sarosiek, Jorge J. Castillo
    e2024061
    2024-06-29
    https://doi.org/10.4084/MJHID.2024.061
    2672
    PDF: 3162
    HTML: 357
  • NF- ?B Essential Modulator Deficiency Leading to Disseminated Cutaneous Atypical Mycobacteria

    Jonathan Braue, Vagishwari Murugesan, Steven Holland, Nishit Patel, Eknath Naik, Jennifer Leiding, Abraham Tareq Yacoub, Carlos N Prieto-Granada, John Norman Greene
    e2015010
    2014-12-27
    https://doi.org/10.4084/mjhid.2015.010
    1661
    PDF: 1083
    HTML: 10691
    Untitled: 181
  • IS IT POSSIBLE TO PREDICT TUMOR PROGRESSION THROUGH GENOMIC CHARACTERIZATION OF MONOCLONAL GAMMOPATHY AND SMOLDERING MULTIPLE MYELOMA? MONOCLONAL GAMMOPATHY AND SMOLDERING MULTIPLE MYELOMA

    Ugo Testa, Prof. Leone, Dr. Elvira Pelosi, Dr. Germana Castelli, Prof, Valerio De Stefano
    e2024044
    2024-04-30
    https://doi.org/10.4084/MJHID.2024.044
    2519
    PDF: 1113
    HTML: 129
  • HB H DISEASE CAUSED BY UNIPARENTAL DISOMY: FIRST REPORT OF THE αT-SAUDIΑ MUTATION IN THE CHINESE POPULATION

    Ge Wang, Hongting Xie, Jun Zhang, Peng Huang, Min Liang, Dina Zhu, Qianqian Zhang, Yuqiu Zhou, Xuan Shang
    e2024069
    2024-08-31
    https://doi.org/10.4084/MJHID.2024.069
    998
    PDF: 596
    Html: 105
    Suppl. Files: 443
  • Could the 3′UTR+101G>C Mutation Detected in Two Sibling Cases Be a Mutation Affecting the Clinical Presentation in Thalassemia Patients?

    Unal Atas, Volkan Karakus, Erdal Kurtoglu
    e2024023
    2024-02-29
    https://doi.org/10.4084/MJHID.2024.023
    556
    PDF: 1055
    HTML: 86
  • Early Diagnosis of Gaucher Disease and ASMD in Sardinia: the “ICHNOS” Project

    Daniela Perra, Carmela Zizzo, Olga Mulas, Luigi Podda, Francesco Longu, Claudio Fozza, Angelo Palmas, Luigi Curreli, Alessandro Costa, Maria Domenica Cappellini, Giovanni Caocci
    e2026016
    2026-01-01
    https://doi.org/10.4084/MJHID.2026.016
    585
    PDF: 461
    Suppl. Files: 124
    Html: 123
  • SUBTYPE DISTRIBUTION AND MUTATION SPECTRUM THALASSEMIA IN CHILDREN UNDER 10 YEARS IN NORTHERN VIETNAM

    Ngoc Dung Nguyen, Ha Thanh Nguyen, Thi Chi Nguyen, Thi Nguyet Anh Phi, Thi Thu Ha Nguyen, Thi Thu Huyen Le, Phuong Linh Hoang, Duc Binh Vu
    e2026002
    2026-01-01
    https://doi.org/10.4084/MJHID.2026.002
    874
    PDF: 520
    Html: 164
  • IMPORTANCE OF HYPERBILURUBINEMIA IN DIFFERENTIATION OF PRIMARY AND SECONDARY HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS IN PEDIATRIC CASES

    seval ozen, alper Dai, enes coskun, serdar oztuzcu, sercan ergun, elif aktekin, sibel yavuz, Ali Bay
    e2014067
    2014-10-28
    https://doi.org/10.4084/mjhid.2014.067
    1751
    PDF: 930
    HTML: 1101
    Untitled: 147
    Untitled: 166
    Untitled: 154
    Untitled: 155
  • Diagnosis of del(5q) MDS, 14 years after JAK-2 positive PV appearance: complete remission of both diseases with lenalidomide monotherapy

    Antonella Vaccarino, Irene Dogliotti, Fabio Marletto, Andrea Demarchi, Mario Bazzan
    e2016050
    2016-10-20
    https://doi.org/10.4084/mjhid.2016.050
    2753
    PDF: 754
    HTML: 1256
    Blood Count trend before and during lenalidomide treatment: 166
    Light micrograph of bone marrow biopsy of a patient with PV and 5q deletion: 181
  • DE NOVO AND THERAPY-RELATED MYELODYSPLASTIC SYNDROMES: ANALOGIES AND DIFFERENCES DE NOVO AND THERAPY-RELATED MYELODYSPLASTIC SYNDROMES

    Prof. Giuseppe Leone, Emiliano Fabiani, Maria Teresa Voso
    e2022030
    2022-04-28
    https://doi.org/10.4084/MJHID.2022.030
    1339
    HTML: 379
    PDF: 808
  • THE IMPORTANCE OF TARGETED NEXT-GENERATION SEQUENCING USAGE IN CYTOGENETICALLY NORMAL MYELOID MALIGNANCIES Targeted next-generation sequencing usage in cytogenetically normal myeloid malignancies

    Emine Atli, Rasime Kalkan, Cisem Mail, Damla Eker, Ufuk Demirci, Selma Demir, Sinem Yalcintepe, Hakki Onur Kirkizlar, Engin Atli, Hakan Gurkan, Ahmet Muzaffer Demir
    e2021013
    2021-01-01
    https://doi.org/10.4084/mjhid.2021.013
    1482
    PDF: 519
    HTML: 258
  • IS HEMOGLOBIN E GENE WIDELY SPREAD IN THE STATE OF MADHYA PRADESH IN CENTRAL INDIA? EVIDENCE FROM FIVE TYPICAL FAMILIES

    R S Balgir
    e2014060
    2014-09-01
    https://doi.org/10.4084/mjhid.2014.060
    1344
    PDF: 858
    HTML: 7925
    Untitled: 195
  • THE EFFECT OF ALPHA THALASSEMIA, HBF and HBC ON HAEMATOLOGICAL PARAMETERS OF SICKLE CELL DISEASE PATIENTS IN IBADAN, NIGERIA. ALPHA THALASSEMIA, HBF and HBC ON HAEMATOLOGICAL PARAMETERS OF SICKLE CELL DISEASE PATIENTS

    FASOLA ATINUKE
    e2022001
    2022-01-01
    https://doi.org/10.4084/MJHID.2022.001
    2226
    PDF: 953
    HTML: 63
  • FINE MAPPING OF GLUCOSE 6 PHOSPHATE DEHYDROGENASE (G6PD) DEFICIENCY IN RURAL AREA OF SOUTH WEST ODISHA USING THE CLINICAL, HEMATOLOGICAL AND MOLECULAR APPROACH

    Ravindra Kumar, MPSS Singh, Soumendu Mahapatra, Sonam Chourasia, Malay Kumar Tripathi, John Oommen, Praveen Kumar Bharti, Rajasubramaniam Shanmugam
    e2020015
    2020-02-26
    https://doi.org/10.4084/mjhid.2020.015
    1715
    PDF: 1010
    HTML: 528
  • GENE THERAPY IN THALASSEMIA AND HEMOGLOBINOPATHIES

    Laura Breda, Roberto Gambari, Stefano Rivella
    e2009008
    2009-11-16
    1253
    PDF: 420
    HTML: 2873
  • BONE MINERAL DENSITY AND VITAMIN D RECEPTOR GENETIC VARIANTS IN EGYPTIAN CHILDREN WITH BETA THALASSEMIA ON VITAMIN D SUPPLEMENTATION

    Hadeer A Abbassy, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar
    e2019013
    2019-01-01
    https://doi.org/10.4084/mjhid.2019.013
    2219
    PDF: 1213
    HTML: 204
  • Response to ibrutinib of a refractory IgA lymphoplasmacytic lymphoma carrying the MYD88 L265P gene mutation

    Francesca Maria Quaglia, Gian Matteo Rigolin, Elena Saccenti, Massimo Negrini, Eleonora Volta, Melissa Dabusti, Maria Ciccone, Antonio Urso, Michele Laudisi, Antonio Cuneo
    e2019057
    2019-08-29
    https://doi.org/10.4084/mjhid.2019.057
    1523
    PDF: 947
    HTML: 235
  • VIRAL CIRRHOSIS: AN OVERVIEW OF HAEMOSTATIC ALTERATIONS AND CLINICAL CONSEQUENCES

    Francesca Romana Ponziani, Valerio De Stefano, Antonio Gasbarrini
    e2009033
    2009-12-29
    https://doi.org/10.4084/mjhid.2009.033
    2586
    PDF: 502
    HTML: 3445
  • THE GROWING ROLE OF THE BH3 MIMETIC DRUG VENETOCLAX IN THE THERAPY OF ACUTE MYELOID LEUKEMIA

    Elvira Pelosi, Dr. Germana Castelli, Ugo Testa
    e2022080
    2022-10-29
    https://doi.org/10.4084/MJHID.2022.080
    1427
    PDF: 1119
    HTML: 256
  • MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE IN EGYPTIAN CHILDREN

    Nermeen Galal, Jeannette Boutros, Aisha Marsafy, Xiao-Fei Kong, Jacqueline Feinberg, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis, Jacinta Bustamante
    e2012033
    2012-05-07
    https://doi.org/10.4084/mjhid.2012.033
    1756
    PDF: 825
    HTML: 1134
    Cover: 179
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