Download PDF
Dtsch Med Wochenschr 2022; 147(19): 1259-1266
DOI: 10.1055/a-1767-8315
Dossier

Das breite Spektrum der Sichelzellkrankheiten: HbSC-Krankheit im klinischen Alltag

The broad spectrum of sickle cell disease: HbSC in everyday clinical practice
Roswitha Dickerhoff
› Further Information
Also available at
    Permissions and Reprints

Sichelzellkrankheiten sind seit den 1950er-Jahren aus dem Mittelmeerraum, aus Afrika und dem Mittleren Osten nach Deutschland gekommen und beschäftigten anfangs hauptsächlich die Pädiater. Seit den 70er-Jahren ist die Lebenserwartung der Betroffenen deutlich angestiegen, ca. 95 % werden heute erwachsen. Deshalb sollten Allgemeinmediziner und Internisten die verschiedenen Formen der Sichelzellkrankheiten, v. a. die HbSC-Krankheit (ca. 20 %), kennen.

Abstract

Sickle cell disease has come to Germany from the Mediterranean region, Africa and the Middle East since the 1950 s and initially mainly concerned paediatricians. Since the 1970 s, the life expectancy of those affected has risen significantly, and about 95 % now live to adulthood. Therefore, general practitioners and internists should be familiar with the different forms of sickle cell disease, especially HbSC disease (approx. 20 %).

A precise diagnosis of sickle cell disease (exact phenotype) is essential; the term „sickle cell anaemia“ must be avoided. In patients of African origin with microcytosis, slightly elevated reticulocytes and pain symptomatology, the possibility of HbSC disease should be considered – even with age-appropriate haemoglobin values. Annual retinoscopy is recommended for HbSC patients from the age of 7, and for all other sickle cell patients from the age of 10. If a hearing loss occurs in an HbSC patient, phlebotomy should be performed immediately. In all sickle cell patients with dizziness or pain and an Hb > 10 g/dl, phlebotomy is indicated.

Schlüsselwörter

Sichelzellkrankheit - HbSC-Krankheit - proliferative Retinopathie - Hörsturz - Aderlass

Key words

sickle cell disease - HbSC-disease - proliferative retinopathy - hearing loss - phlebotomy


Publication History

Article published online:
20 September 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • Literatur

  • 1 Distelmaier L, Dührsen U, Dickerhoff R. Sichelzellkrankheit. Internist 2020; 61: 754-758
    CrossrefPubMedGoogle Scholar
  • 2 Spencer JD, Sanders JT, Ault BH. Two cases of hematuria with hemoglobin C trait. Pediatr Nephrol 2009; 24: 2455-2457
    CrossrefPubMedGoogle Scholar
  • 3 Akar N, Ekim M. Further notes on hemoglobin C and hematuria. Pediatr Nephrol 2002; 17: 72
    CrossrefPubMedGoogle Scholar
  • 4 Bookchin RM, Nagel RN, Ranney HM. Structure and Properties of Hemoglobin CHarlem, a Human Hemoglobin Variant with Amino Acid Substitutions in 2 Residues of the β-Polypeptide Chain. J Biol Chem 1967; 242: 248-255
    CrossrefPubMedGoogle Scholar
  • 5 Cook CM, Smeltzer MP, Mortier NA. et al. The Clinical and Laboratory Spectrum of HbC[β6(A3) Glu→Lys, GAG>AAG] disease. Hemoglobin 2013; 37: 16-25
    CrossrefPubMedGoogle Scholar
  • 6 Lemonne N, Billaud M, Waltz X. et al. Rheology of red blood cells in patients with HbC disease. Clin Hemorheol Microcirc 2016; 61: 571-577
    CrossrefPubMedGoogle Scholar
  • 7 Gualandro SFM, Fonseca GHH, Yokomizo IA. et al. Cohort study of adult patients with hemoglobin SC disease: clinical characteristics and predictors of mortality. Br J Haematol 2015; 171: 631-637
    CrossrefPubMedGoogle Scholar
  • 8 Lemonne N, Lamarre Y, Romana M. et al. Impaired blood rheology plays a role in the chronic disorders associated with sickle cell hemoglobin C disease. Haematologica 2014; 99: e74
    CrossrefPubMedGoogle Scholar
  • 9 Lionnet F, Hammoudi N, Stojanovic K. et al. Hemoglobin SC disease complications: a clinical study of 179 cases. Haematologica 2012; 97: 1136-1141
    CrossrefPubMedGoogle Scholar
  • 10 Menaa F, Khan BA, Uzair B. et al. Sickle cell retinopathy: improving care with a multidisciplinary approach. J Multidiscip Health 2017; 206: 186-197
    PubMedGoogle Scholar
  • 11 Mitropoulos PG, Chatziralli IP, Parikakis EA. et al. Intravitreal Ranibizumab for Stage IV Proliferative Sickle Cell Retinopathy: A First Case Report. Case Rep Ophthalmol Med 2014; 2014: 1-6
    PubMedGoogle Scholar
  • 12 Naymagon L, Pendurti G, Billett HH. Acute Splenic Sequestration Crisis in Adult Sickle Cell Disease: a Report of 16 Cases. Hemoglobin 2015; 39: 375-379
    CrossrefPubMedGoogle Scholar
  • 13 Naik RP, Streiff MB, Haywood jr C. et al. Venous thromboembolism in adults with sickle cell disease: a serious and under-recognized complication. Am J Med 2013; 126: 443-449
    CrossrefPubMedGoogle Scholar
  • 14 Lionnet F. Venous and Arterial Viscosity-associated Thrombosis in Hemoglobin SC Disease. Am J Med 2013; 126: e13
    CrossrefPubMedGoogle Scholar
  • 15 Oteng-Ntim E, Ayensah B, Knight M. et al. Pregnancy outcome in patients with sickle cell disease in the UK – a national cohort study comparing sickle cell anaemia (HbSS) with HbSC disease. Br J Haematol 2015; 169: 129-137
    CrossrefPubMedGoogle Scholar
  • 16 Porter B, Key NS, Chapman V. et al. Impact of Sickle Hemoglobinopathies on Pregnancy-related Venous Thromboembolism. Am J Perinatol 2014; 31: 805-810
    PubMedGoogle Scholar