Add to ORKGA Chinese family in which two siblings suffer from haemogloblin (Hb) H disease due to (--SEA) α-globin gene deletion and α2-codon 30 (ΔGAG) mutation is described. Both siblings are transfusion-independent and have survived to adulthood. In contrast to previous report of hydrops fetalis associated with ζ-α-thal-1 and α2-codon 30 (ΔGAG) mutation, the ζ-globin genes are intact in the two siblings, which most probably alleviates the γ-chain excess and protects the fetus from severe anaemia. Correlation of genotype with phenotype in Hb H disease is important for genetic counselling, especially in the antenatal setting.link_to_subscribed_fulltex
A Chinese family with concurrent hereditary spherocytosis (HS) and haemoglobin (Hb) Q-Thailand is de...
Background: Fetal haemoglobin (HbF) level modifies the clinical severity of HBB disorders. Intergeni...
α-Thalassemia is one of the most prevalent hemoglobin disorders in the world, in South-East Asians, ...
Objective: We report a rare mutation on the α2-globin gene, HBA2: c.91_93delGAG and its potential fu...
In Southeast Asia, where thalassemia is prevalent, heterozygous carriers of both β-thalassemia mutat...
A 42-year-old Chinese woman (FP) was the mother of a patient with β-thalassemia major (β-TM) due to ...
Background We describe 2 unusual haemoglobin (Hb) Bart’s hydrops cases that could not be explained b...
Objective: The thalassemias is a group of hereditary disorders with impaired production of functiona...
A marked genetic and clinical variability of the Hb H syndrome occurs because of the molecular heter...
To present a novel 91.5-kb deletion of the α-globin gene cluster (αα)FJ identified by genetic assay ...
Summary: A single nucleotide substitution and the effect on the phenotype in an Indonesian family wi...
A Chinese patient with hemoglobin (Hb) H and Hb New York is described. Unlike classical Hb H disease...
Hb H disease is generally associated with moderate to severe anemia but rarely requires regular bloo...
Hb H disease is a form of α-thalassemia often manifested clinically as thalassemia intermedia with m...
The molecular defect in two unique cases of Hb H hydrops fetalis has been characterized. Both cases ...
A Chinese family with concurrent hereditary spherocytosis (HS) and haemoglobin (Hb) Q-Thailand is de...
Background: Fetal haemoglobin (HbF) level modifies the clinical severity of HBB disorders. Intergeni...
α-Thalassemia is one of the most prevalent hemoglobin disorders in the world, in South-East Asians, ...
Objective: We report a rare mutation on the α2-globin gene, HBA2: c.91_93delGAG and its potential fu...
In Southeast Asia, where thalassemia is prevalent, heterozygous carriers of both β-thalassemia mutat...
A 42-year-old Chinese woman (FP) was the mother of a patient with β-thalassemia major (β-TM) due to ...
Background We describe 2 unusual haemoglobin (Hb) Bart’s hydrops cases that could not be explained b...
Objective: The thalassemias is a group of hereditary disorders with impaired production of functiona...
A marked genetic and clinical variability of the Hb H syndrome occurs because of the molecular heter...
To present a novel 91.5-kb deletion of the α-globin gene cluster (αα)FJ identified by genetic assay ...
Summary: A single nucleotide substitution and the effect on the phenotype in an Indonesian family wi...
A Chinese patient with hemoglobin (Hb) H and Hb New York is described. Unlike classical Hb H disease...
Hb H disease is generally associated with moderate to severe anemia but rarely requires regular bloo...
Hb H disease is a form of α-thalassemia often manifested clinically as thalassemia intermedia with m...
The molecular defect in two unique cases of Hb H hydrops fetalis has been characterized. Both cases ...
A Chinese family with concurrent hereditary spherocytosis (HS) and haemoglobin (Hb) Q-Thailand is de...
Background: Fetal haemoglobin (HbF) level modifies the clinical severity of HBB disorders. Intergeni...
α-Thalassemia is one of the most prevalent hemoglobin disorders in the world, in South-East Asians, ...