Skip to main content
Home
Zeitschriften
Zeitungen
Podcast
Gesundheitspolitik
Praxis
Allerlei
Jobs
Fachgebiete
Allgemeinmedizin Anästhesiologie & Intensivmedizin Apotheke Augenheilkunde Chirurgie Dermatologie Gynäkologie und Geburtshilfe HNO Innere Medizin Kinder & Jugendheilkunde Neurologie & Psychiatrie Orthopädie & Unfallchirurgie Pflege Urologie Zahnmedizin
Subfächer Innere Medizin
Diabetologie Gastroenterologie Infektiologie Kardiologie Onkologie und Hämatologie Pneumologie Rheumatologie
Fortbildungen
Überblick Fortbildungen DFP-Literaturstudium-Artikel DFP-Webcast Fortbildungen DFP-Podcasts
Erweiterte Suche
Anmelden
nach oben
memo - Magazine of European Medical Oncology
Erschienen in:

13.04.2018 | short review

Hemoglobinopathies—genetically diverse, clinically complex, and globally relevant

verfasst von: Prof. Dr. Holger Cario

Erschienen in: memo - Magazine of European Medical Oncology | Ausgabe 3/2018

Einloggen, um Zugang zu erhalten

Summary

Hemoglobinopathies represent the most frequent monogenic disorders worldwide. Migration during recent years led to a profoundly increasing number of patients in countries where the indigenous population has not been affected. This short review will give an overview on etiology, pathogenesis, clinical features, diagnostics, and treatment of the most relevant hemoglobinopathies, i.e., the thalassemias and sickle cell disease.
Vorheriger Artikel Role of complement in the pathogenesis of thrombotic microangiopathies
Nächster Artikel Current and evolving treatment strategies in adult immune thrombocytopenia
Literatur
1.
Kohne E. Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. Dtsch Arztebl Int. 2011;108(31–32):532–40.PubMedPubMedCentral
2.
3.
Patrinos GP, Giardine B, Riemer C, Miller W, Chui DH, Anagnou NP, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32:D537–D41.CrossRefPubMedPubMedCentral
4.
5.
6.
7.
Cario H, Grosse R, Janssen G, Jarisch A, Meerpohl J, Strauss G. Guidelines for diagnostics and treatment of secondary iron overload in patients with congenital anemia. Klin Padiatr. 2010;222(6):399–406.CrossRefPubMed
8.
9.
Premawardhena A, Arambepola M, Katugaha N, Weatherall DJ. Is the beta thalassaemia trait of clinical importance? Br J Haematol. 2008;141(3):407–10.PubMed
10.
Taher AT, Musallam KM, Cappellini MD, Weatherall DJ. Optimal management of beta thalassaemia intermedia. Br J Haematol. 2011;152(5):512–23.CrossRefPubMed
11.
Taher A, Vichinsky E, Musallam KM, Cappellini MD, Viprakasit V, editors. Guidelines for the management of non transfusion dependent thalassemia. Nicosia: Thalassemia International Federation; 2013.
12.
Algiraigri AH, Kassam A. Hydroxyurea for hemoglobin E/beta-thalassemia: a systematic review and meta-analysis. Int J Hematol. 2017;106(6):748–56.CrossRefPubMed
13.
Cario H, Wegener M, Debatin KM, Kohne E. Treatment with hydroxyurea in thalassemia intermedia with paravertebral pseudotumors of extramedullary hematopoiesis. Ann Hematol. 2002;81(8):478–82.CrossRefPubMed
14.
Musallam KM, Taher AT, Cappellini MD, Sankaran VG. Clinical experience with fetal hemoglobin induction therapy in patients with beta-thalassemia. Blood. 2013;121(12):2199–212.CrossRefPubMed
15.
Motta I, Scaramellini N, Cappellini MD. Investigational drugs in phase I and phase II clinical trials for thalassemia. Expert Opin Investig Drugs. 2017;26(7):793–802.CrossRefPubMed
16.
Cappellini MD, Cohen A, Porter J, Taher A, Viprakasit V, editors. Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT). Nicosia: Thalassemia International Federation; 2014.
17.
King A, Shenoy S. Evidence-based focused review of the status of hematopoietic stem cell transplantation as treatment of sickle cell disease and thalassemia. Blood. 2014;123(20):3089–94.CrossRefPubMed
18.
Negre O, Eggimann AV, Beuzard Y, Ribeil JA, Bourget P, Borwornpinyo S, et al. Gene Therapy of the beta-Hemoglobinopathies by Lentiviral Transfer of the beta(A(T87Q))-Globin Gene. Hum Gene Ther. 2016;27(2):148–65.CrossRefPubMedPubMedCentral
19.
Piel FB, Steinberg MH, Rees DC. Sickle cell disease. N Engl J Med. 2017;376(16):1561–73.CrossRefPubMed
20.
Zhang D, Xu C, Manwani D, Frenette PS. Neutrophils, platelets, and inflammatory pathways at the nexus of sickle cell disease pathophysiology. Blood. 2016;127(7):801–9.CrossRefPubMedPubMedCentral
21.
Ware RE, de Montalembert M, Tshilolo L, Abboud MR. Sickle cell disease. Lancet. 2017;390(10091):311–23.CrossRefPubMed
22.
Hankins JS, Ware RE, Rogers ZR, Wynn LW, Lane PA, Scott JP, et al. Long-term hydroxyurea therapy for infants with sickle cell anemia: the HUSOFT extension study. Blood. 2005;106(7):2269–75.CrossRefPubMedPubMedCentral
23.
Voskaridou E, Christoulas D, Bilalis A, Plata E, Varvagiannis K, Stamatopoulos G, et al. The effect of prolonged administration of hydroxyurea on morbidity and mortality in adult patients with sickle cell syndromes: results of a 17-year, single-center trial (LaSHS). Blood. 2010;115(12):2354–63.CrossRefPubMed
24.
DeBaun MR, Kirkham FJ. Central nervous system complications and management in sickle cell disease. Blood. 2016;127(7):829–38.CrossRefPubMed
25.
Metcalf B, Chuang C, Dufu K, Patel MP, Silva-Garcia A, Johnson C, et al. Discovery of GBT440, an orally bioavailable R‑state stabilizer of sickle cell hemoglobin. ACS Med Chem Lett. 2017;8(3):321–6.CrossRefPubMedPubMedCentral
26.
Ataga KI, Kutlar A, Kanter J, Liles D, Cancado R, Friedrisch J, et al. Crizanlizumab for the prevention of pain crises in sickle cell disease. N Engl J Med. 2017;376(5):429–39.CrossRefPubMed
27.
Metadaten
Titel
Hemoglobinopathies—genetically diverse, clinically complex, and globally relevant
verfasst von
Prof. Dr. Holger Cario
Publikationsdatum
13.04.2018
Verlag
Springer Vienna
Erschienen in
memo - Magazine of European Medical Oncology / Ausgabe 3/2018
Print ISSN: 1865-5041
Elektronische ISSN: 1865-5076
DOI
https://doi.org/10.1007/s12254-018-0402-4

Weitere Artikel der Ausgabe 3/2018

Current concepts and future directions in neoadjuvant chemotherapy of breast cancer

  • Open Access
  • review

Educational no. 2: flow cytometry

  • educational

Thrombotic thrombocytopenic purpura

  • Open Access
  • review

SABCS 2017: update on chemotherapy, targeted therapy, and immunotherapy

  • Open Access
  • short review

Still making progress

  • editorial

Adenoid cystic carcinoma of the sublingual salivary gland obstructing the submandibular salivary gland duct

  • case report