Two cases with Hemoglobin H and overview to prenatal diagnosis and preimplantation genetic diagnosis in Alfa Thalassemia

Volume: 11 Number: 1 January 1, 2018
Akif Ayaz , Metin Eser
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İki Hemoglobin H’lı olgu ve Alfa Talasemi’de prenatal tanı ve preimplantasyon genetik tanıya bakış

Abstract

Alfa talasemi, α-globin zincirinin kusurlu sentezi ile ortaya çıkan, yaygın görülen bir tek gen hastalığıdır. Hastalığın ağır formlarından biri olan Hb H hastalığı üç α-globin geninin etkilenmesi ile ortaya çıkar. HbH hastalarda splenomegali, gelişme geriliği, çeşitli düzeylerde sarılık, ayakta ülser, sık enfeksiyon öyküsü, safra kesesi taşı gibi bulgular görülebilir. Hb H hastalığında klinik spektrumun geniş olması nedeniyle alfa talasemi taşıyıcı ebeveynlere verilecek genetik danışma zordur. Bu yüzden genotip fenotip ilişkisinin daha da netleşmesi için bu konuda çok sayıda çalışmaya ihtiyaç duyulmaktadır. Biz de bu amaçla 2 Hb H hastalıklı olgunun ve ailesinin kinik, hematolojik ve genotipik bulgularını paylaştık.

Keywords

Hb H Hastalığı, Prenatal Tanı, Preimplantasyon Genetik Tanı.

References

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Details

Primary Language

English

Subjects

-

Journal Section

-

Authors

Akif Ayaz This is me

Metin Eser This is me

Publication Date

January 1, 2018

Submission Date

January 1, 2018

Acceptance Date

-

Published in Issue

Year 2018 Volume: 11 Number: 1

IZ

https://izlik.org/JA62XT37LX

Cite

RIS / Bibtex
APA
Ayaz, A., & Eser, M. (2018). Two cases with Hemoglobin H and overview to prenatal diagnosis and preimplantation genetic diagnosis in Alfa Thalassemia. Pamukkale Medical Journal, 11(1), 85-88. https://izlik.org/JA62XT37LX
AMA
1.Ayaz A, Eser M. Two cases with Hemoglobin H and overview to prenatal diagnosis and preimplantation genetic diagnosis in Alfa Thalassemia. Pam Med J. 2018;11(1):85-88. https://izlik.org/JA62XT37LX
Chicago
Ayaz, Akif, and Metin Eser. 2018. “Two Cases With Hemoglobin H and Overview to Prenatal Diagnosis and Preimplantation Genetic Diagnosis in Alfa Thalassemia”. Pamukkale Medical Journal 11 (1): 85-88. https://izlik.org/JA62XT37LX.
EndNote
Ayaz A, Eser M (January 1, 2018) Two cases with Hemoglobin H and overview to prenatal diagnosis and preimplantation genetic diagnosis in Alfa Thalassemia. Pamukkale Medical Journal 11 1 85–88.
IEEE
[1]A. Ayaz and M. Eser, “Two cases with Hemoglobin H and overview to prenatal diagnosis and preimplantation genetic diagnosis in Alfa Thalassemia”, Pam Med J, vol. 11, no. 1, pp. 85–88, Jan. 2018, [Online]. Available: https://izlik.org/JA62XT37LX
ISNAD
Ayaz, Akif - Eser, Metin. “Two Cases With Hemoglobin H and Overview to Prenatal Diagnosis and Preimplantation Genetic Diagnosis in Alfa Thalassemia”. Pamukkale Medical Journal 11/1 (January 1, 2018): 85-88. https://izlik.org/JA62XT37LX.
JAMA
1.Ayaz A, Eser M. Two cases with Hemoglobin H and overview to prenatal diagnosis and preimplantation genetic diagnosis in Alfa Thalassemia. Pam Med J. 2018;11:85–88.
MLA
Ayaz, Akif, and Metin Eser. “Two Cases With Hemoglobin H and Overview to Prenatal Diagnosis and Preimplantation Genetic Diagnosis in Alfa Thalassemia”. Pamukkale Medical Journal, vol. 11, no. 1, Jan. 2018, pp. 85-88, https://izlik.org/JA62XT37LX.
Vancouver
1.Akif Ayaz, Metin Eser. Two cases with Hemoglobin H and overview to prenatal diagnosis and preimplantation genetic diagnosis in Alfa Thalassemia. Pam Med J [Internet]. 2018 Jan. 1;11(1):85-8. Available from: https://izlik.org/JA62XT37LX

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