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Data collected by the national German SCD registry reflect this diversity and allowed us to analyze the phenotypes associated with different SCD genotypes. Our study focused on 90 patients with HbS\/\u03b2\u2010thalassaemia (HbS\/\u03b2\u2010thal) and compared these to patients with HbSS and HbSC. Patients with HbS\/\u03b2\u2010thal were classified into three groups: HbS\/\u03b2<jats:sup>0<\/jats:sup>\u2010thal (no HbA), HbS\/\u03b2<jats:sup>+<\/jats:sup>\u2010thal (HbA\u2009&lt;\u200914%), and HbS\/\u03b2<jats:sup>++<\/jats:sup>\u2010thal (HbA\u226514%). In comparison to HbSS, patients with HbS\/\u03b2<jats:sup>++<\/jats:sup>\u2010thal had higher Hb\u2010levels, lower hemolytic activity and rarely required red blood cell transfusions. HbS\/\u03b2<jats:sup>0<\/jats:sup>\u2010thal and HbS\/\u03b2<jats:sup>+<\/jats:sup>\u2010thal closely resembled each other and are jointly referred to as HbS\/\u03b2<jats:sup>0\/+<\/jats:sup>\u2010thal. Compared to HbSS, patients with HbS\/\u03b2<jats:sup>0\/+<\/jats:sup>\u2010thal experienced a similar frequency of vasoocclusive crises and degree of hemolysis. However, the frequency of red blood cell transfusions (0.6 vs. 0.39\/year, <jats:italic>p<\/jats:italic>\u2009=\u2009.0049) and splenic sequestration crises (42.4 vs. 15.5% of patients, <jats:italic>p<\/jats:italic>\u2009=\u20093.799e\u201005) was higher in HbS\/\u03b2<jats:sup>0\/+<\/jats:sup>\u2010thal than in HbSS, but close to zero in HbS\/\u03b2<jats:sup>++<\/jats:sup>\u2010thal. In conclusion, the level of HbA expression determines the phenotype of HbS\/\u03b2<jats:sup>+<\/jats:sup>\u2010thal. HbS\/\u03b2\u2010thal expressing no or little HbA is hematologically similar to HbSS, but causes a previously unknown high risk of splenic sequestration.<\/jats:p>","DOI":"10.1111\/ejh.14259","type":"journal-article","created":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T04:19:41Z","timestamp":1719807581000},"page":"501-509","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The German sickle cell disease registry reveals a surprising risk of acute splenic sequestration and an increased transfusion requirement in patients with compound heterozygous sickle cell disease <scp>HbS<\/scp>\/\u03b2\u2010thalassaemia and no or low <scp>HbA<\/scp> expression"],"prefix":"10.1111","volume":"113","author":[{"given":"Pierre","family":"Allard","sequence":"first","affiliation":[{"name":"Department of Pediatric Oncology, Haematology and Immunology, Hopp\u2010Children's Cancer Center (KiTZ) Heidelberg University of Heidelberg  Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Tagliaferri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Haematology and Immunology, Hopp\u2010Children's Cancer Center (KiTZ) Heidelberg University of Heidelberg  Heidelberg Germany"},{"name":"GPOH Konsortium Sichelzellkrankheit  Berlin\/Frankfurt\/Hamburg\/Heidelberg\/Koblenz\/Ulm Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivienn","family":"Weru","sequence":"additional","affiliation":[{"name":"Abteilung Biostatistik, Deutsches Krebsforschungszentrum (DKFZ)  Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"Cario","sequence":"additional","affiliation":[{"name":"GPOH Konsortium Sichelzellkrankheit  Berlin\/Frankfurt\/Hamburg\/Heidelberg\/Koblenz\/Ulm Germany"},{"name":"Universit\u00e4tsklinikum Ulm, Klinik f\u00fcr Kinder\u2010 und Jugendmedizin, P\u00e4diatrische H\u00e4matologie und Onkologie  Ulm Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5398-0610","authenticated-orcid":false,"given":"Stephan","family":"Lobitz","sequence":"additional","affiliation":[{"name":"GPOH Konsortium Sichelzellkrankheit  Berlin\/Frankfurt\/Hamburg\/Heidelberg\/Koblenz\/Ulm Germany"},{"name":"Gemeinschaftsklinikum Mittelrhein, Kemperhof, P\u00e4diatrische H\u00e4matologie und Onkologie  Koblenz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regine","family":"Grosse","sequence":"additional","affiliation":[{"name":"GPOH Konsortium Sichelzellkrankheit  Berlin\/Frankfurt\/Hamburg\/Heidelberg\/Koblenz\/Ulm Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Bleeke","sequence":"additional","affiliation":[{"name":"GPOH Konsortium Sichelzellkrankheit  Berlin\/Frankfurt\/Hamburg\/Heidelberg\/Koblenz\/Ulm Germany"},{"name":"Universit\u00e4tsklinikum Hamburg\u2010Eppendorf, Zentrum f\u00fcr Geburtshilfe, Kinder\u2010 und Jugendmedizin, Klinik und Poliklinik f\u00fcr P\u00e4diatrische H\u00e4matologie und Onkologie  Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lena","family":"Oevermann","sequence":"additional","affiliation":[{"name":"GPOH Konsortium Sichelzellkrankheit  Berlin\/Frankfurt\/Hamburg\/Heidelberg\/Koblenz\/Ulm Germany"},{"name":"Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin, Campus Virchow\u2010Klinikum, Klinik f\u00fcr P\u00e4diatrie m.S. 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