Group "Anemia"

Anemia is often equated to iron deficiency. Although this is a common and fortunately treatable cause of anemia, there are numerous other, often very rare, reasons for anemia. Inherited forms of anemia in particular are chronic, lifelong diseases that, depending on their severity, can severely affect physical and mental development.

The diagnosis is first made on the basis of the patient's medical history and blood count, further genetic tests are often necessary. In addition to the common treatments such as blood transfusions, iron-removing medication or stimulation of blood formation, also new therapeutic options such as stem cell transplantation or gene therapy have emerged in recent years.

In Heidelberg we are the first treatment center worldwide to offer gene therapy for ß-thalassemia in need of transfusion outside of studies, and we also provide all the diagnostic and therapeutic options needed to optimally treat patients with anemia. In addition to direct patient care, we collect clinical data and experience in our sickle cell disease and other rare anemia registers, which should benefit patients from all over Germany.

Main research aspects

Within the Consortium Sickle Cell Disease ( of the Society for Pediatric Oncology and Hematology (GPOH), the Clinic for Pediatric Oncology, Hematology and Immunology at Heidelberg University Hospital is responsible for the sickle cell disease patient register. 579 patients are registered in this register (status 06/2020). Thanks to the results of the research group Anemia and the register we hope the sickle cell disease to be included in the list of the target disease for newborn screening in the near future. The sickle cell disease register is funded by the German Childhood Cancer Foundation.

The GPOH Rare Anemia Register includes patients with rare anemia requiring treatment who are not already recorded in another GPOH register. These include thalassemia intermedia and thalassemia maior, the serious erythrocyte membrane diseases and the enzyme defects of the erythrocytes. Patients with unexplained anemia can also be included in the registry, for which we offer comprehensive genetic diagnostics. The register of rare anemias is funded by the Dietmar Hopp Foundation.

Our laboratory, which specializes in the molecular diagnosis of hemoglobin diseases, not only offers the molecular-genetic confirmation of the diagnosis, but also an examination of the most important genetic characteristics that influence the manifestation of sickle cell disease. A research area that the group is currently working on is to describe the influence of these factors on the course of sickle cell disease in the patients in our registry. For patients with unexplained, probably inherited anemia, we offer comprehensive molecular genetic diagnostics, which in individual cases can extend to exome sequencing.

A clinical focus is stem cell transplantation and gene therapy for blood diseases. In recent years, numerous patients have been cured of their thalassemia or sickle cell disease by the now well-established option of allogeneic stem cell transplantation. In addition, the Clinic for Pediatric Oncology, Hematology and Immunology has also participated in early gene therapy studies using lentiviral "gene addition" and is currently the first clinic to offer this innovative therapy aimed at permanent healing in certain patients with thalassemia even outside of studies.


  • Prof. Dr. med. Andreas Kulozik (Physician Scientist)
  • Prof. Dr. Martina Muckenthaler (Physician Scientist)
  • Dr. med. Joachim Kunz (Physician Scientist)
  • Dott. ssa. Laura Tagliaferri (Physician Scientist)
  • Adil Mirzayev (Physician Scientist)
  • Margit Happich (Technician)
  • Gabriele Tolle (Technician)


Prof. Dr. med. Martina Muckenthaler
Phone: +49 6221 - 566023

Dr. med. Joachim Kunz
Phone: +49 6221 - 564002

Selected publications

1. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W. Blood. 2018 May 17;131(20):2183-2192. doi: 10.1182/blood-2017-10-810796. Epub 2018 Mar 16. PMID: 29549173 Clinical Trial.

2. Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference. Lobitz S, Telfer P, Cela E, Allaf B, Angastiniotis M, Backman Johansson C, Badens C, Bento C, Bouva MJ, Canatan D, Charlton M, Coppinger C, Daniel Y, de Montalembert M, Ducoroy P, Dulin E, Fingerhut R, Frömmel C, García-Morin M, Gulbis B, Holtkamp U, Inusa B, James J, Kleanthous M, Klein J, Kunz JB, Langabeer L, Lapouméroulie C, Marcao A, Marín Soria JL, McMahon C, Ohene-Frempong K, Périni JM, Piel FB, Russo G, Sainati L, Schmugge M, Streetly A, Tshilolo L, Turner C, Venturelli D, Vilarinho L, Yahyaoui R, Elion J, Colombatti R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Haematological Diseases. Br J Haematol. 2018 Nov;183(4):648-660. doi: 10.1111/bjh.15600. Epub 2018 Oct 18. PMID: 30334577 Clinical Trial.

3. Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study. van Beers EJ, van Straaten S, Morton DH, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Kwiatkowski JL, Rothman JA, Sharma M, Neufeld EJ, Sheth S, Despotovic JM, Kollmar N, Pospíšilová D, Knoll CM, Kuo K, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Verhovsek M, Kunz J, McNaull MA, Rose MJ, Bradeen HA, Addonizio K, Li A, Al-Sayegh H, London WB, Grace RF. Haematologica. 2019 Feb;104(2):e51-e53. doi: 10.3324/haematol.2018.196295. Epub 2018 Sep 13. PMID: 30213831 Free PMC article. No abstract available.

4. Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. Bianchi P, Fermo E, Lezon-Geyda K, van Beers EJ, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al-Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF. Am J Hematol. 2020 May;95(5):472-482. doi: 10.1002/ajh.25753. Epub 2020 Mar 6. PMID: 32043619

5. Sickle cell disease in Germany: Results from a national registry. Kunz JB, Lobitz S, Grosse R, Oevermann L, Hakimeh D, Jarisch A, Cario H, Beier R, Schenk D, Schneider D, Groß-Wieltsch U, Prokop A, Heine S, Khurana C, Erlacher M, Dürken M, Linke C, Frühwald M, Corbacioglu S, Claviez A, Metzler M, Ebinger M, Full H, Wiesel T, Eberl W, Reinhard H, Tagliaferri L, Allard P, Karapanagiotou-Schenkel I, Rother LM, Beck D, Le Cornet L, Kulozik AE; German Sickle Cell Disease Registry. Pediatr Blood Cancer. 2020 Apr;67(4):e28130. doi: 10.1002/pbc.28130. Epub 2019 Dec 22. PMID: 31867835

6. Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC). Tagliaferri L, Kunz JB, Happich M, Esposito S, Bruckner T, Hübschmann D, Okun JG, Hoffmann GF, Schulz A, Kappe J, Speckmann C, Muckenthaler MU, Kulozik AE. Clin Immunol. 2017 Feb;175:51-55. doi: 10.1016/j.clim.2016.11.016. Epub 2016 Dec 2. PMID: 27916705

7. The epidemiology of sickle cell disease in Germany following recent large-scale immigration. Kunz JB, Cario H, Grosse R, Jarisch A, Lobitz S, Kulozik AE. Pediatr Blood Cancer. 2017 Jul;64(7). doi: 10.1002/pbc.26550. Epub 2017 Apr 6. PMID: 28383793

8. Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening. Kunz JB, Awad S, Happich M, Muckenthaler L, Lindner M, Gramer G, Okun JG, Hoffmann GF, Bruckner T, Muckenthaler MU, Kulozik AE. Ann Hematol. 2016 Feb;95(3):397-402. doi: 10.1007/s00277-015-2573-y. Epub 2015 Dec 12. PMID: 26658910