scholarly journals Co-inheritance of α- and β-thalassemia in a Bangladeshi family

2017 ◽  
Vol 10 (2) ◽  
pp. 123 ◽  
Author(s):  
Mohammad Mizanur Rahman ◽  
Lutfunnahar Khan

<p>The double heterozygous state of α– and β–thalassemia is a relatively rare genetic disorder in Bangladesh which may alter the hematological indices and modify the phenotypic features of thalassemia. An 8 year old boy of a non-consanguineous couple who inherited both α– and β–thalassemia gene from his parents had presented with only mild anemia. Capillary hemoglobin electrophoresis showed the hemoglobin patterns which were in favor of the diagnosis of combined heterozygous alpha and beta thalassaemia carrier. Although molecular genetic study of the boy confirmed the presence of IVS 1–5 G&gt;C point mutation for β–thalassemia but could not detect α–thalassemia gene as the sample was tested for only five most common α–thalassemia gene mutation which is not as much prevalent in Bangladesh. However, basing on the family screening and the hemoglobin pattern on capillary hemoglobin electrophoresis, it can be concluded that the boy is certainly carrying both α– and β–thalassemia gene.</p>

Author(s):  
N. R. Akramov ◽  
I. V. Osipova ◽  
A. M. Zakirova ◽  
E. I. Khaertdinov ◽  
E. L. Rashitova

The case of observing a patient with WT1 gene mutation in exone 7 with bilateral Wilms metachronous tumor, disturbance of the sex formation in the form of scrotal hypospadias and bilateral abdominal cryptorchidism, without nephropathy, is presented. The child underwent surgical operations: left-sided nephrectomy, resection of the lower pole of the right kidney, bilateral orchiopexy and two-stage hypospadias correction. 7 years after the start of treatment and 3 years after the final operation, the condition of the child was estimated as satisfactory. The presented case by the results of the molecular genetic study has no previously described analogues and requires further observation.


2019 ◽  
Vol 96 (1) ◽  
pp. 91-97
Author(s):  
Maria Goncharova ◽  
Olesya Pshenichnikova ◽  
Yulia Luchinina ◽  
Yaroslav Pustovoit ◽  
Irina Karpova ◽  
...  

2018 ◽  
Vol 72 ◽  
pp. 100-106 ◽  
Author(s):  
Iñigo Espinosa ◽  
Antonio De Leo ◽  
Emanuela D'Angelo ◽  
Juan M. Rosa-Rosa ◽  
Marina Corominas ◽  
...  

2000 ◽  
Vol 13 (12) ◽  
pp. 1336-1346 ◽  
Author(s):  
Maureen J O'Sullivan ◽  
Michael Kyriakos ◽  
Xiaopei Zhu ◽  
Mark R Wick ◽  
Paul E Swanson ◽  
...  

2003 ◽  
Vol 25 (5) ◽  
pp. 362-366 ◽  
Author(s):  
Harumi Saijo ◽  
Harumi Nakayama ◽  
Takanori Ezoe ◽  
Katsuhito Araki ◽  
Sui Sone ◽  
...  

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