Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee
المؤلفون المشاركون
Lands, Ronald
Worth, Heidi A.
Marlette, Zachary
Aljadir, David
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-3، 3ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-05-26
دولة النشر
مصر
عدد الصفحات
3
التخصصات الرئيسية
الملخص EN
Hereditary hyperferritinemia and cataracts syndrome (HHCS) without iron overload is a syndrome first identified less than 3 decades ago.
While investigators have dissected the gene where several responsible mutations reside, it remains a relatively unknown genetic disorder to clinicians.
The result is often an expensive, invasive evaluation for iron overload, followed by a well-intended prescription for a series of phlebotomies that delivers morbidity instead of benefit.
We present a father with an elevated ferritin and heterozygosity for H63D HFE mutation whose clinical course followed this path.
His treatment rendered him symptomatic from iron deficiency with no reduction in his ferritin.
On re-evaluation, a review of his past medical history clarified the cataract surgery noted in his record had occurred at a young age.
Furthermore, one of his daughters required cataract surgery as a teenager.
With this information, we strongly suspected HHCS.
His phlebotomies were discontinued, and within weeks, his iatrogenic iron deficiency resolved and his health returned to normal.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Worth, Heidi A.& Marlette, Zachary& Aljadir, David& Lands, Ronald. 2020. Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee. Case Reports in Hematology،Vol. 2020, no. 2020, pp.1-3.
https://search.emarefa.net/detail/BIM-1147633
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Worth, Heidi A.…[et al.]. Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee. Case Reports in Hematology No. 2020 (2020), pp.1-3.
https://search.emarefa.net/detail/BIM-1147633
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Worth, Heidi A.& Marlette, Zachary& Aljadir, David& Lands, Ronald. Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee. Case Reports in Hematology. 2020. Vol. 2020, no. 2020, pp.1-3.
https://search.emarefa.net/detail/BIM-1147633
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1147633
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر