Holzgreve W, Sevinchan E, Kohne E, Sevinchan S, Miny P, Horst J
Department of Obstetrics and Gynecology, Westf. Wilhelms-Universität, Münster, F.R.G.
Eur J Obstet Gynecol Reprod Biol. 1990 Jan-Feb;34(1-2):137-47. doi: 10.1016/0028-2243(90)90017-u.
A sample of 165 normal Turkish probands (79 males, 86 females) living in the F.R.G. was screened for the presence of heterozygous beta-thalassemia as well as their knowledge and perception of thalassemias in general. Hematologic studies revealed two persons to be heterozygous for beta-thalassemia who had not known this before. This incidence of 1.2% in our sample of Turkish probands living in the F.R.G. is in accordance with the average range of 0.2-6% given by the World Health Organization for Turkey. The probands' places of origin in Turkey correlate well with the pattern of migration within the country, with most people coming from central Anatolia which is an area with a relatively low incidence of beta-thalassemia. Interviews conducted by a Turkish doctor revealed that the knowledge about thalassemias and the function of blood in general was extremely limited in our study population. On the other hand, 50% of the respondents would refrain from marriage or choose a different partner if both partners knew that they were heterozygous for thalassemia. 19% would still marry in this situation but refrain from having children. When asked about their most likely decision in the case of an early diagnosis of homozygous thalassemia, 78% said they would have a termination and only 15% would definitely go on with the pregnancy. About 65% felt that consanguineous marriage is a predisposing factor for diseases in the offspring. From our study it can be concluded that a large-scale screening program in the high-risk population which exists in most Mediterranean countries would be difficult regarding the more than one million people from Turkey living in the F.R.G. and would have to take into account the cultural and educational conditions of the Turkish minority. In general, if no Turkish-speaking specialist is available to explain the diagnostic possibilities, probably pre-pregnancy or early pregnancy testing would be the most appropriate way of reaching the couples at risk in the German medical system.
对居住在联邦德国的165名正常土耳其先证者(79名男性,86名女性)进行了筛查,以检测杂合子β地中海贫血的存在情况,以及他们对地中海贫血总体的了解和认知。血液学研究发现有两人为β地中海贫血杂合子,此前他们并不知晓。在我们居住在联邦德国的土耳其先证者样本中,1.2%的发病率与世界卫生组织给出的土耳其0.2 - 6%的平均范围相符。这些先证者在土耳其的原籍地与该国的移民模式密切相关,大多数人来自安纳托利亚中部,这是一个β地中海贫血发病率相对较低的地区。一位土耳其医生进行的访谈显示,在我们的研究人群中,对地中海贫血以及血液一般功能的了解极其有限。另一方面,如果双方都知道自己是地中海贫血杂合子,50%的受访者会避免结婚或选择不同的伴侣。19%的人在这种情况下仍会结婚但避免生育。当被问及如果早期诊断为纯合子地中海贫血他们最可能的决定时,78%的人表示会选择终止妊娠,只有15%的人肯定会继续妊娠。约65%的人认为近亲结婚是后代患病的一个诱发因素。从我们的研究可以得出结论,对于居住在联邦德国的超过100万土耳其人这一高危人群开展大规模筛查项目会有困难,并且必须考虑到土耳其少数群体的文化和教育状况。一般来说,如果没有会说土耳其语的专家来解释诊断可能性,那么在德国医疗体系中,孕前或孕早期检测可能是接触到有风险夫妇的最合适方式。