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 HbS/β‐thalassaemia and no or low HbA expression

Patients with sickle cell disease (SCD) in Germany exhibit a substantial genetic diversity in the β‐globin genotype. 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 pat...

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Published in:	European journal of haematology Vol. 113; no. 4; pp. 501 - 509
Main Authors:	Allard, Pierre, Tagliaferri, Laura, Weru, Vivienn, Cario, Holger, Lobitz, Stephan, Jarisch, Andrea, Kopp‐Schneider, Annette, Lassay, Lisa, Kontny, Udo, Frühwald, Michael, Westphal, Silke, Schulte, Johannes, Oevermann, Lena, Hakimeh, Dani, Eckert, Maike, Khurana, Claudia, Calaminus, Gabriele, Eberl, Wolfgang, Mudler, Astrid, Scheer‐Preis, Johanna, Eberling, Torsten, Pekrun, Arnulf, Fröhling, Stefan, Bernbeck, Benedikt, Lara‐Villacanas, Eusebia, Westkemper, Marco, Brummel, Bastian, Naumann‐Bartsch, Nora, Zierk, Jakob, Aramayo‐Singelmann, Carmen, Erlacher, Miriam, Mauz‐Körholz, Christine, Meinhardt, Andrea, Ströter, Natascha, Körholz, Dieter, Hauch, Holger, Kullmann, Silke, Kühnle, Ingrid, Ebert, Sabine, Asemissen, Anne Marie, Beilken, Andreas, Lamottke, Britta, Maecker‐Kolhoff, Britta, Sander, Annette, Sauer, Martin, Kunz, Joachim, Full, Hermann, Simon, Arne, Krenn, Thomas, Leipold, Alfred, Lacroix, Jeannine, Hartel, Simone, Nathrath, Michaela, Rodehüser, Martina, Vieth, Simon, Heydrich‐Karsten, Christiane, Behr, Ümmügül, Ziehe, Christine, Balzer, Stephan, Belke, Luisa, Simon, Thorsten, Hero, Barbara, Christiansen, Holger, Fischer, Lars, Starke, Sven, Faber, Jörg, Wingerter, Arthur, El Malki, Khalifa, Otto, Henrike, Robinson, Abigale, Theisen‐Riedel, Marie, Dürken, Matthias, Karremann, Michael, El‐Hilali, Marie‐Luise, Albert, Michael, Meilbeck, Rita, Schenk, Daniela, Wawer, Angela, Rössig, Claudia, Corbacioglu, Selim, Föll, Jürgen, Kramer, Sonja, Tröger, Anja, Kietz, Silke, Classen, Carl Friedrich, Schütte, Peter, Reinhard, Harald, Blattmann, Claudia, Knirsch, Stephanie, Ebinger, Martin, Holzer, Ursula, Brecht, Ines, Lang, Peter, Döring, Michaela, Pritschow, Yvonne
Format:	Journal Article
Language:	English
Published:	England Wiley Subscription Services, Inc 01-10-2024
Subjects:	Adolescent Adult anemia Anemia, Sickle Cell - complications Anemia, Sickle Cell - diagnosis Anemia, Sickle Cell - therapy beta-Thalassemia - diagnosis beta-Thalassemia - genetics beta-Thalassemia - therapy Blood diseases Blood levels Blood Transfusion Child Child, Preschool Erythrocytes Female Gene Expression Genetic diversity Genotype Genotypes Germany - epidemiology Hemoglobin A - analysis Hemoglobin A - metabolism Hemoglobin, Sickle - genetics Hemoglobin, Sickle - metabolism Heterozygote Humans Male Middle Aged Phenotype Phenotypes Phenotypic variations Registries sickle cell Sickle cell disease Spleen Thalassemia Young Adult Germany anemia thalassemia sickle cell
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Summary:	Patients with sickle cell disease (SCD) in Germany exhibit a substantial genetic diversity in the β‐globin genotype. 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/β‐thalassaemia (HbS/β‐thal) and compared these to patients with HbSS and HbSC. Patients with HbS/β‐thal were classified into three groups: HbS/β0‐thal (no HbA), HbS/β+‐thal (HbA < 14%), and HbS/β++‐thal (HbA≥14%). In comparison to HbSS, patients with HbS/β++‐thal had higher Hb‐levels, lower hemolytic activity and rarely required red blood cell transfusions. HbS/β0‐thal and HbS/β+‐thal closely resembled each other and are jointly referred to as HbS/β0/+‐thal. Compared to HbSS, patients with HbS/β0/+‐thal 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, p = .0049) and splenic sequestration crises (42.4 vs. 15.5% of patients, p = 3.799e‐05) was higher in HbS/β0/+‐thal than in HbSS, but close to zero in HbS/β++‐thal. In conclusion, the level of HbA expression determines the phenotype of HbS/β+‐thal. HbS/β‐thal expressing no or little HbA is hematologically similar to HbSS, but causes a previously unknown high risk of splenic sequestration.
Bibliography:	Supplementary Appendix A full list of the members of the Sickle Cell Disease Study Group appears in the . ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0902-4441 1600-0609 1600-0609
DOI:	10.1111/ejh.14259