Pérez Sirvent M, Moreno Miralles I, Boluferx Gilabert P, Lerma Alejos E, Gómez Rejas M A, Vayá Montaña A, Tascón Astigarraga A, Dasí Carpio M A, Martínez Silvestre M, López Espinosa A R, Hernández Mateo L, Gil Alfonso R
Servicio de Hematología, Hospital Universitario La Fe, Valencia.
Sangre (Barc). 1998 Oct;43(5):392-8.
The aim of the study is to present the first results of molecular characterization of thalassaemias in Valencian Community and their relationship with the haematological parameters.
The study includes 87 thalassemic patients: 30 alpha-thalassaemias, 40 beta-thalassaemias and 17 delta beta-thalassaemias. The molecular alterations were studied in white cell blood DNA, either following different PCR methods or by testing the digestion of the amplified PCR products with selective restriction enzymes.
The molecular characterization of beta-thalassaemias was achieved in 94% of the subjects, being the transition C-->T in CD-39 the most frequent (44%) of the mutations studied. 94% of the delta beta-thalassaemias studied corresponded to the delta beta-Spanish type. All the alpha thalassaemias characterized (64%) corresponded to the -alpha 3.7 deletion. The reamining 36% were negative for the alpha 0 deletions --MED, --20.5, or the non deletional mutations Hph I and NocI.
In the Valencian Community, like what has been described for the beta-thalassaemias in other Mediterranean regions of Spain (Barcelona, Granada and Mallorca), a high incidence in C-->T transition in CD-39 was observed, in contrast with central and south-western regions of Spain, where the G-->A IVS-I-1 is the most frequent mutation. Our study supports that the IVS-I-6 mutations is the one with lower repercussions on the haematological parameters. Our study confirms the Spanish type of delta beta-thalassaemia as the most frequent in the Valencian Community, and that the 3.7 kb alpha deletion is the most frequent mutation for the alpha-thalassaemia, although alpha thalassaemia is also the poorly characterized form of thalassaemia.
本研究旨在呈现巴伦西亚自治区地中海贫血分子特征的首批结果及其与血液学参数的关系。
本研究纳入87例地中海贫血患者：30例α地中海贫血、40例β地中海贫血和17例δβ地中海贫血。采用不同的聚合酶链反应（PCR）方法或用选择性限制性内切酶检测扩增的PCR产物消化情况，对白细胞DNA中的分子改变进行研究。
94%的受试者实现了β地中海贫血的分子特征分析，在所研究的突变中，CD-39位点的C→T转换最为常见（44%）。所研究的94%的δβ地中海贫血属于δβ西班牙型。所有已明确特征的α地中海贫血（64%）对应于-α3.7缺失。其余36%的α0缺失（--MED、--20.5）或非缺失性突变Hph I和NocI检测为阴性。
在巴伦西亚自治区，如同西班牙其他地中海地区（巴塞罗那、格拉纳达和马略卡）对β地中海贫血的描述一样，观察到CD-39位点C→T转换的高发生率，这与西班牙中部和西南部地区不同，在这些地区G→A IVS-I-1是最常见的突变。我们的研究支持IVS-I-6突变对血液学参数的影响较小。我们的研究证实，西班牙型δβ地中海贫血在巴伦西亚自治区最为常见，并且3.7 kbα缺失是α地中海贫血最常见的突变，尽管α地中海贫血也是地中海贫血中特征描述较少的类型。
