English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

The β-thalassemias are a group of hereditary disorders with autosomal recessive inheritance characterized by the presence of defective synthesis of the β-globin chain, an integral component of the hemoglobin molecule, resulting in either partial synthesis (β+) or complete absence (β0) [1]. The disease reaches a high frequency in the Mediterranean Basin, Africa, the Middle East, the Indian subcontinent, and Southeast Asia [2]. According to the World Health Organization, the frequency of abnormal hemoglobin is 7% globally [3]. β-Thalassemia major is characterized by completely inhibited synthesis of beta chains [4], and so it must be treated, generally by transfusion therapy [4]. The β-thalassemia major phenotype has homozygotes or compound heterozygotes for β0 or β+ genes. Generally, mutations targeting the coding regions of the gene and conservative regions on the exon-intron boundary lead to β0-thalassemia, and mutations in regions that do not encode β+-thalassemia. In contrast to the major type, the presence of one normal gene in heterozygotes usually leads to enough normal β-globin chain synthesis so that the affected individuals are usually asymptomatic with only hypochromic and microcytic red blood cells. This condition is referred to as β-thalassemia minor [5]. β-Thalassemia intermedia clinically differs from the major and minor ones with respect to the necessity of transfusion. The degree of anemia for β-thalassemia major is more aggravated than that for β-thalassemia intermedia. The genotype of β-thalassemia intermedia is mostly

Two Rare Pathogenic HBB Variants in a Patient with β Thalassemia İntermedia