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Hematology Reports, Volume 14, Issue 3

2022 September - 12 articles

Cover Story: SMARCD2 is critical for myelopoiesis. Recently, bi-allelic SMARCD2 mutations have been reported in five children, causing autosomal recessive congenital neutropenia with specific granulocytes deficiency (CN-SGD)—a syndrome resulting in G-CSF resistant neutropenia, recurrent infections, and dysplastic myelopoiesis. We report a new case with CN-SGD caused by two novel heterozygous pathogenic variants in the SMARCD2 gene (c.1081del (p.Gln361Argfs*15), and (c.217C>T (p.Arg73*). Treatment with the weekly dosing of thrombopoietin receptor agonist, Romiplostim, along with daily G-CSF transformed her clinical course, implying potential synergism. This report advances the understanding of CN-SGD caused by SMARCD2 mutations. View this paper
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Articles (12)

  • Article
  • Open Access
3 Citations
3,360 Views
10 Pages

19 September 2022

Prednisolone, used as a standard initial treatment for immune thrombocytopenia (ITP), is an important risk factor for osteoporosis. To investigate the prevention of glucocorticoid-induced osteoporosis (GIO) in elderly ITP patients receiving prolonged...

  • Case Report
  • Open Access
4 Citations
2,542 Views
6 Pages

Congenital Neutropenia with Specific Granulocyte Deficiency Caused by Novel Double Heterozygous SMARCD2 Mutations

  • Abukhiran Ibrahim,
  • Anjali Sharathkumar,
  • Heather McLaughlin,
  • David Claassen and
  • Sharathkumar Bhagavathi

9 September 2022

SMARCD2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2) is critical for myelopoiesis. Recently, bi-allelic SMARCD2 mutations have been reported in five children, causing autosomal recessive congenit...

  • Brief Report
  • Open Access
4 Citations
4,483 Views
5 Pages

Triple-Negativity Identifies a Subgroup of Patients with Better Overall Survival in Essential Thrombocythemia

  • Marco Santoro,
  • Vincenzo Accurso,
  • Salvatrice Mancuso,
  • Mariasanta Napolitano,
  • Marta Mattana,
  • Giorgia Vajana,
  • Federica Russello and
  • Sergio Siragusa

24 August 2022

Essential thrombocythemia, as defined by the WHO in 2016, is a Philadelphia-negative chronic myeloproliferative neoplasm showing a better prognosis than polycythemia vera and myelofibrosis. In a variable percentage, patients with essential thrombocyt...

  • Case Report
  • Open Access
4 Citations
3,851 Views
4 Pages

Successful Treatment of Autoimmune Hemolytic Anemia Concomitant with Proliferation of Epstein-Barr Virus in a Post-Heart Transplant Patient

  • Dan Ran Castillo,
  • Parthiv Sheth,
  • Kevin Nishino,
  • Wesley Tait Stevens,
  • Anthony Nguyen,
  • Alberto Romagnolo and
  • Hamid Mirshahidi

17 August 2022

Autoimmune hemolytic anemia (AIHA) is a rare complication following heart transplantation and has been attributed to several etiologies including infections, immunosuppressive medications, and post-transplant lymphoproliferative disorders. We report...

  • Review
  • Open Access
19 Citations
4,070 Views
8 Pages

COVID-19-Associated Thrombotic Thrombocytopenic Purpura: A Case Report and Systematic Review

  • Haseeb Chaudhary,
  • Usama Nasir,
  • Khezar Syed,
  • Maria Labra,
  • Christopher Reggio,
  • Ansar Aziz,
  • Parin Shah,
  • Roopika Reddy and
  • Navdeep Sangha

2 August 2022

Introduction: The proliferation of literature regarding the COVID-19 pandemic has served to highlight a wide spectrum of disease manifestations and complications, such as thrombotic microangiopathies. Our review with a brief case presentation highlig...

  • Article
  • Open Access
8 Citations
4,992 Views
8 Pages

Clinical Epidemiology Characteristics and Etiology of Febrile Neutropenia in Children: Analysis of 421 Cases

  • Sang Ngoc Nguyen,
  • Lam Tung Vu,
  • Quang Van Vu,
  • Tham Thi Tran and
  • Vi Tuong Thi Dinh

1 August 2022

The congenital immune system includes neutrophils, which perform a variety of functions. Congenital and acquired neutropenia are rare illnesses with an underestimated prevalence in children. The aim of this study is to examine the epidemiology and et...

  • Case Report
  • Open Access
2 Citations
2,891 Views
5 Pages

Efficacy of Eltrombopag in Children with Post-Stem Cell Transplant Prolonged Isolated Thrombocytopenia

  • Megumi Matsumoto,
  • Kazuki Terada,
  • Taichiro Tsuchimochi,
  • Satoko Takahashi,
  • Yasushi Noguchi and
  • Shunji Igarashi

1 August 2022

Prolonged isolated thrombocytopenia (PIT) is a complication following allogeneic hematopoietic cell transplantation that results in prolonged transfusion dependence. Recently, the efficacy of a thrombopoietin receptor agonist (eltrombopag) against PI...

  • Case Report
  • Open Access
19 Citations
5,850 Views
5 Pages

Patients with sickle cell anemia often receive multiple red blood cell (RBC) transfusions during their lifetime. Hyperhemolysis is a life-threatening phenomenon of accelerated hemolysis and worsening anemia that occurs when both transfused RBCs and a...

  • Article
  • Open Access
2 Citations
5,102 Views
7 Pages

Hematologic Complications in Patients Hospitalized with COVID-19 Infection

  • Elisa Lin,
  • Ellen Araj,
  • John Markantonis,
  • Hung Luu and
  • Mingyi Chen

Introduction: This review summarizes data from patients with COVID-19 requiring intensive care unit (ICU) admission. The goals of this study are to showcase some morphological anomalies found in peripheral blood smears from COVID-19 patients and to b...

  • Article
  • Open Access
2,879 Views
6 Pages

Comparison of Response to Rituximab Therapy in Adults with Refractory Symptomatic Immune Thrombocytopenia According to the Presence of Accessory Spleen

  • Fehmi Hindilerden,
  • Ipek Yonal-Hindilerden,
  • Mustafa Nuri Yenerel,
  • Meliha Nalcaci and
  • Reyhan Diz-Kucukkaya

No data exist for the association between the presence of accessory spleen after splenectomy and response to rituximab in immune thrombocytopenia (ITP). We investigated the relationship between accessory spleen presence and rituximab response in sple...

  • Case Report
  • Open Access
1 Citations
3,642 Views
9 Pages

CMV Colitis: A Rare Complication of Azacitidine and Venetoclax Chemotherapy

  • Mustafa Nissar Bankur,
  • Archie Keeling,
  • Khoodoruth Mohamed Adil Shah and
  • Daniele Avenoso

Herein, we present a case of cytomegalovirus (CMV) colitis that occurred after two cycles of azacitidine and venetoclax in a 64-year-old woman affected with acute myeloid leukaemia (AML) secondary to a previous diagnosis of a hypoplastic myelodysplas...

  • Case Report
  • Open Access
7 Citations
5,280 Views
3 Pages

Gastric bypass is a common cause of vitamin B12 deficiency. It can lead to patients presenting with symptoms of anemia. The body has significant reserves of vitamin B12 and loses vitamin B12 slowly. The following case is of a patient who underwent a...

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Hematol. Rep. - ISSN 2038-8330