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Category Archives: Papers

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PSYCHOLOGICAL DISTRESS AND COPING STRATEGIES AMONG PARENTS OF BETA- THALASSEMIA MAJOR PATIENTS

Author: Shazia Ali, Fazaila Sabih+, Sarwat Jehan, Masood Anwar and Sabira Javed
Department of Physiology Islamic International Medical CollegePeshawar Road Rawalpindi, Pakistan
Abstract.
β-Thalassemia major is a disorder characterized by defective production of hemoglobin and excessive destruction of red blood cells. The usual treatment […]

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PRENATAL DIAGNOSIS OF BETA-THALASSAEMIA IN PAKISTAN: EXPERIENCE IN A MUSLIM COUNTRY

Authors: Suhaib Ahmed1, Mohammad Saleem1, Nadra Sultana2, Yasmeen Raashid3, Amin Waqar1, Masood Anwar1, Bernadette Modell4, Karamat A. Karamat1 and Mary Petrou.
Overview:
A service for prenatal diagnosis of b-thalassaemia was introduced in Pakistan in May 1994. Two renowned
Islamic scholars, consulted before the service was […]

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PRENATAL DIAGNOSIS OF Β-THALASSEMIA: 12 YEARS’ EXPERIENCE AT A SINGLE LABORATORY IN PAKISTAN

Author: Suhaib Ahmed
Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan
Objective To evaluate the service for prenatal diagnosis of β-thalassemia in Pakistan.
Methods All prenatal diagnoses (PNDs) for β-thalassemia since the introduction of the service in 1994 were
studied. PND was done by […]

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PRENATAL DIAGNOSIS OF ROBERTS SYNDROME AND DETECTION OF AN ESCO2 FRAMESHIFT MUTATION IN A PAKISTANI FAMILY

Authors: Solveig Schulz1*, Claudia Gerloff2, Susanne Ledig1, Dorothea Langer3, Mariannne Volleth1,
Katayoon Shirneshan1 and Peter Wieacker1,4
Objectives We report two siblings with Roberts syndrome (RBS), and an attempt to delineate the underlying
molecular mechanism leading to familial recurrence.
Methods Cytogenetic studies and direct sequencing of the ESCO2 […]

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NON-INVASIVE PRENATAL DETERMINATION OF FETAL RHD GENOTYPING FROM MATERNAL PLASMA: A PRELIMINARY STUDY IN PAKISTAN

Authors: Nuruddin Mohammed, Fatima Kakal, Mehreen Somani and Wajiha Zafar
ABSTRACT
Objective: To determine the accuracy of the non-invasive pre-natal real-time polymerase chain reaction based fetal RhD genotyping from maternal plasma.
Study Design: Cross-sectional study.
Place and Duration of Study: Juma Health Sciences Research Laboratory, The Aga […]

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ACCEPTANCE OF FIRST-TRIMESTER PRENATAL DIAGNOSIS FOR THE HAEMOGLOBINOPATHIES IN LEBANON

Author: L. Zahed
SUMMARY
We have interviewed 83 couples at risk for a haemoglobin disorder, mostly â-thalassaemia, in an effort to evaluate
their attitude towards first-trimester prenatal diagnosis. Most of the families had received poor education and were
of low socio-economic status and more […]

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