A key question in evolutionary genetics is why certain mutations or certain types of mutation make disproportionate contributions to adaptive phenotypic evolution. In principle, the preferential fixation of particular mutations could stem directly from variation in the underlying rate of mutation to function-altering alleles. However, the influence of mutation bias on the genetic architecture o...

Haemoglobin E-beta thalassaemia (Hb E/β-thalassaemia) is the genotype responsible for approximately one-half of all severe beta-thalassaemia worldwide. The disorder is characterized by marked clinical variability, ranging from a mild and asymptomatic anaemia to a life-threatening disorder requiring transfusions from infancy. The phenotypic variability of Hb E/β-thalassaemia and the paucity of l...

Objective: To investigate the value of CTC clinical features and blood-related test indicators in renal cancer patients by detecting number circulating tumor cells (CTC) with cancer. Methods: analyze 59 cell carcinoma (RCC) admitted to Department Urology, Affiliated Hospital Chengde Medical College from May 2018 October 2019. According count (5 pcs/3.5 ml), they were divided into positive group...

Hb E-Saskatoon and Hb G-Coushatta are rare hemoglobin variants that are not a health problem. Herein we present a Turkish woman that was diagnosed as homozygous Hb E-Saskatoon (only the second such case reported from Turkey) and a Turkish boy diagnosed as heterozygote Hb E-Saskatoon. Additionally, 2 Turkish sisters diagnosed as heterozygote Hb G-Coushatta are presented.

Hemoglobin (Hb) Q-Thailand, also known as G-Taichung, Mahidol, Kurashiki-I and Asabara, is an α-globin chain variant that results from a point mutation (GAC→CAC; Asp→His) at codon 74 of the α1-globin gene on chromosome 16p with a leftward single α-globin gene deletion (-α(4.2)). Co-inheritance of Hb Q-Thailand with α-thalassemia (mainly --(SEA)) results in thalassemia intermedia, termed Hb Q-H ...

BACKGROUND A beta-hemoglobin variant (beta 126 (H4) Val-->Gly) was reported from Thailand and Naples (Southern Italy) as Hb Dhonburi (1) and Hb Neapolis (2), respectively. This abnormal hemoglobin, resulting from a valine to glycine substitution in the contact region between alpha and beta subunits, gives rise to instability at non-physiological conditions. However, it was difficult to distingu...

AIMS An abnormality in the glycated haemoglobin peak (Hb A1c) on Diastat (Bio-Rad) cation exchange low pressure liquid chromatography (LPLC) was found in three Punjabi patients with diabetes. The aims of this study were to identify the variant by chromatography and electrophoresis and to determine whether a DNA analysis test could be designed for confirmation that could be generally applied for...

Sickle cell disease (SCD) results from a single amino acid substitution in the gene encoding the -globin subunit ( 6Glu > Val) that produces the abnormal hemoglobin (Hb) named Hb S. SCD has different genotypes with substantial variations in presentation and clinical course (Table 1).1,2 The combination of the sickle cell mutation and beta-thalassemia ( -Thal) mutation gives rise to a compound h...

Hb Hasharon has an electrophoretic mobility similar to that of Hb S in cellulose acetate and a mobility between Hb S and C at acid pH. In high-performance liquid chromatography, Hb Hasharon shows a distinct chromatographic profile and retention time. The origin of this variant is a mutation in codon 47 (GAC --> CAC) of the alpha2-globin gene, resulting in the replacement of asparagine by histid...

Each year, an estimated 300,000 infants are born with either of the two most common hemoglobinopathies: the sickle cell diseases or the thalassemias. These inherited diseases are the most prevalent monogenetic disorders worldwide. Sickle cell disease makes up 85% of the total infants, and thalassemias the remaining 15%. It is increasingly apparent that sickle cell disease and thalassemia have b...