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.

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.

The term "sickle cell disease" covers a group of genetic blood disorders caused by sickle hemoglobin (HbS) alone or in combination with other variants of the beta-globin locus. Sickle cell disease occurs frequently in sub-Saharan Africa, but is also common in Turkey, Greece, Sicily, the Middle East, India, and the Americas. Polymerization of deoxygenated sickle hemoglobin leads to decreased deformability of red blood cells. These altered erythrocytes can obstruct small blood vessels and cause acute episodes of pain, hemolytic anemia, and organ damage. Complications can vary between the different genotypes and it is important to be aware of the special features of the disease. Hydroxycarbamide has been shown to reduce the morbidity and mortality of patients with sickle cell disease. New drugs and novel treatment approaches such as gene therapy are currently being tested.

Sichelzellkrankheiten und Thalassämien sind seit den 1960er-Jahren mit Migranten aus südlichen Ländern nach Deutschland gekommen und gehören heute zum klinischen Alltag. Sichelzellpatienten, von denen es 2020 schätzungsweise etwa 3000 Kinder und Erwachsene in Deutschland gibt, haben eine chronische, lebensverkürzende Multiorgankrankheit und benötigen die Expertise aller Fachrichtungen. Neben symptomatischer Therapie, u. a. mit Hydroxycarbamid, Analgetika, Transfusionen und Antibiotika, gibt es die kurative Stammzelltransplantation (SZT) und neuerdings die Möglichkeit der Gentherapie. Die Thalassämien (zzt. etwa 500–600 Patienten mit Thalassaemia major und Thalassaemia intermedia) weisen ebenfalls ein sehr breites Spektrum klinischer Manifestationen auf. Auch hier gibt es neben der konventionellen Therapie, Transfusion und Chelattherapie die SZT und die Gentherapie. Für beide Krankheitsbilder ist viel Spezialwissen und Erfahrung nötig zur optimalen Betreuung. Wegen der relativ geringen Fallzahlen in Deutschland kann jeder Einzelne nur begrenzte Erfahrung sammeln und ist deshalb auf Leitlinien und Erfahrung größerer Zentren angewiesen. Zusätzlich zur Betreuung der Patienten gilt es, da beide Erkrankungen autosomal-rezessiv vererbt werden, die asymptomatischen Träger zu identifizieren, um sie über ihr genetisches Risiko zu informieren und ihnen pränatale Diagnostik anbieten zu können.

Hemoglobin disorders such as the thalassemias and sickle cell disease have been present in Germany since the arrival of immigrants from the eastern Mediterranean region, Africa, and Asia in the 1950s. These hereditary diseases not only require very complex treatment, but also render screening for asymptomatic carriers necessary, in order to prevent the birth of an affected child in the next generation. Pediatricians, internists, general practitioners, and gynecologists have to rise to this challenge.

Drug Prescribing for Patients with Chronic Kidney Disease in General Practice: a Cross-Sectional Study

Hämoglobinkrankheiten wie die Thalassämien und Sichelzellkrankheiten sind mit den Migrationsbewegungen aus der östlichen Mittelmeerregion, Afrika und Asien seit den 1950er-Jahren nach Deutschland gekommen. Diese hereditären Erkrankungen erfordern nicht nur eine sehr komplexe Therapie, sie machen es auch notwendig, die asymptomatischen Träger zu diagnostizieren, um die Geburt kranker Kinder in der nächsten Generation zu verhindern. Pädiater, Internisten, Allgemeinmediziner und Gynäkologen müssen sich dieser Herausforderung stellen.

Unter der deutschen Bevölkerung mit Migrationshintergrund gibt es derzeit je ca. 150 000–200 000 gering- oder asymptomatische Träger von Thalassämien (α und β) und Sichelzellkrankheiten. Die in Deutschland im Vergleich mit Nachbarländern relativ geringe Zahl von Sichelzell- (ca. 1000–1500) und Thalassämiepatienten (ca. 500–600) könnte erklären, dass diese Erkrankungen bei uns noch nicht als ein Problem der öffentlichen Gesundheit angesehen werden. Bei optimaler Betreuung erreichen heute 85–90 % der Kinder mit Sichelzellkrankheit und 100 % der Kinder mit Thalassämia major und Thalassämia intermedia das Erwachsenenalter. Um auf die Probleme von Patienten mit Hämoglobin-Krankheiten aufmerksam zu machen, wird in dieser Arbeit über die wichtigsten Krankheitsmanifestationen erwachsener Patienten berichtet und es werden Informationsmöglichkeiten aufgezeigt. Regionale Zentren sollten bei akuten Problemen im Krankheitsverlauf kontaktiert werden. Bis jetzt ist es für viele Patienten mit Sichelzellkrankheit bzw. Thalassämie schwierig, nach Erreichen des Erwachsenenalters Ärzte zu finden, die sich mit den beiden Erkrankungen auskennen. Deshalb werden in Deutschland viele erwachsene Patienten weiter von Pädiatern betreut. Dringend benötigt werden Referenz-Zentren, die Erfahrung in der Behandlung erwachsener Patienten haben, Hämatologen ausbilden und den reibungslosen Übergang von der Pädiatrie in die Erwachsenenmedizin garantieren können.

Among the German population with migration background there are probably 150 000-200 000 carriers of thalassemia (α und β) and sickle cell disease, respectively, who have no or little symptoms. Compared to neighboring countries the number of sickle cell (1000-1500) and thalassemia patients (500-600) in Germany is rather low. This may explain the fact that hemoglobin diseases are not yet considered a public health problem in Germany. With optimal care 85-90 % of children with sickle cell disease and 100 % of children with thalassemia reach adulthood. In order to increase awareness for patients with hemoglobin diseases we discuss the most pertinent disease manifestations of adult patients and point out possibilities to obtain information. Specialists in regional centers should be addressed for acute management problems. Up to now it is difficult for many adult sickle cell and thalassemia patients to find a physician well enough informed and experienced to take over the care of their complex disease. Many adult patients are still taken care of by pediatricians. Urgently needed are reference centers with experience in management of hemoglobin diseases who are qualified for training hematologists and who can assure the transition of these patients from pediatrics to adult medical care.

Newly diagnosed immune thrombocytopenia occurs in 3-5/100 000 children < 14 y per year. Bleeding symptoms do not correlate with platelet count. Diagnostic approach includes history, clinical examination and analysis of blood count with blood smear by experienced hematologist. Additional investigations are only necessary in atypical cases and cases with additional symptoms or inadequate response to therapy. The decision to treat ITP should be made cautiously and not entirely be based on the platelet count. Decisions based on clinical symptoms and progress of the illness are more reasonable. There is no evidence, that therapy at the time of diagnosis influences the further course and can avoid intracerebral hemorrhage.

Germany has been an immigration country since the early 1950s. In December 2007, 6.7 million non-German citizens lived in the country. However, the total number of citizens with a migration background is 15–20 million, about 9 million of whom come from countries where sickle cell disease and thalassaemias are frequent. In a country with 82 million inhabitants health authorities are not worried by the presence of probably 1000–1500 sickle cell and 450 transfusion-dependent thalassaemia patients, and therefore no screening or preventive measures have been taken so far on a national scale. There are plans for a pilot project (1 year) to screen all newborns for sickle cell disease in obstetric hospitals in 4–5 cities with more than 20% migrants. Funding and lack of an infrastructure to provide counselling are major problems.

Drug Prescribing for Patients with Chronic Kidney Disease in General Practice: a Cross-Sectional Study

Wegen vielfacher Problematik müssen Patienten mit Sichelzellanämie auch sonographisch regelmäßig untersucht werden. Die bekanntesten sonographisch fassbaren Komplikationen sind Gallenblasensludge und -Steine, Splenomegalie, Milzinfarkte, Milzsequestration, Abszessbildungen.

Sickle cell anemia is a hereditary hemoglobinopathy characterized by chronic hemolysis, increased infections and recurring vasoocclusions which can cause acute and chronic damage to all organs. As of May 2006, there are probably 1,000 sickle cell patients living in Germany: migrants from the Mediterranean area, the Middle East, Africa and Asia. As there is no neonatal screening for this disease in Germany, patients are diagnosed by mere chance if they happen to be found to have hemolytic anemia, recurrent pain or pneumonia or one of the severe complications caused by the disease. Diagnosis is made by hemoglobin analysis. Providing optimal care for patients with such a complex disease requires a great deal of knowledge and experience that cannot be acquired by each individual physician in Germany. A sickle cell information centre is therefore indispensable for providing physicians with up to date management guidelines and for consultation when complications arise.