ß-thalassemia and alkaptonuria

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Diabetes mellitus in ß-thalassemia major patients

-thalassemia major is a disease caused by  polypeptide chain synthesis disorder which is inherited as an autosomal recessive from both parents which is marked by little or no  globin chain synthesis. Medication for  thalassemia major patients is by repeated blood transfusions, which causes hemochromatosis. Hemochromatosis can occur in various organs including the pancreas. The aim of the st...

متن کامل

Alkaptonuria.

Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in co...

متن کامل

Adaptation to anemia in hemoglobin E-ß thalassemia.

Hemoglobin E β thalassemia is the commonest form of severe thalassemia in many Asian countries. Its remarkably variable clinical phenotype presents a major challenge to determining its most appropriate management. In particular, it is not clear why some patients with this condition can develop and function well at very low hemoglobin levels. Here, we demonstrate that patients with hemoglobin Eβ...

متن کامل

Lipid Profile in Jordanian Children with ß-thalassemia Major

The aim of the present study was to investigate the lipid pattern in Jordanian children with Beta-thalassemia major (ß-TM). Twenty six transfusion dependent ß-TM patients, 14 males and 12 females, (mean age 9 ± 5 years) that undergo periodical blood transfusion and desferioxame as a chelating agent, were studied. Twenty controls of matched age and gender were also included in the study. ß-thala...

متن کامل

Hypothyroidism and Serum Ferritin Level in Patients with Major ß Thalassemia

Abstract Introduction Major ß Thalassemia represents a group of recessively inherited hemoglobin disorder, which is characterized by reduced synthesis of globins chains. Frequent blood transfusions can lead to iron overload, which may result in several endocrine complication especially in the absence of adequate chelating therapy. The objective of this study were to determine the prevalence of...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Indian Journal of Human Genetics

سال: 2014

ISSN: 0971-6866

DOI: 10.4103/0971-6866.132772