Hemoglobin Hammersmith is a rare unstable variant of hemoglobin with decreased oxygen affinity. We report the case of a 3-year-old Colombian girl that initially consulted due to a presumptive diagnosis of iron deficiency anemia. During the evaluation we noticed typical features of chronic hemolytic anemia such as hepatosplenomegaly, jaundice and indirect hyperbilirubinemia; with the presence of target cells and intraerythrocytic inclusions with appearance of tactoids in the peripheral blood smear. The diagnosis of hemoglobin Hammersmith was confirmed through DNA sequencing revealing a pathogenic heterozygous variant in the beta globin chain gene due to a de novo mutation
Hemoglobinopathies, the disorders of hemoglobin structure and synthesis, can be divided into two for...
A clinically asymptomatic 12-year-old girl showed microcytosis in routine examination. Cation exchan...
Hemoglobin (Hb) Indianapolis [beta112 (G14) Cys-->Arg] is a rare and slightly unstable beta-globin v...
Las variantes estructurales de la hemoglobina resultan, en su mayoría, de sustituciones concretas de...
We describe two unrelated patients, both heterozygous for an unstable hemoglobin (Hb) variant named ...
International audienceHb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C] is a rare β-globin gene variant t...
Hb variants are structurally abnormal haemoglobins which can originate a wide range of phenotypes fr...
AbstractA new β-variant has been detected and structurally defined in a French male, with a life-lon...
To understand the hemolytic anemia (HA) in children, the diagnostic approach and management of hered...
Unstable hemoglobin disorders are characterized by a congenital, mostly familial chronic hemolytic a...
BACKGROUND: Hemoglobin Shepherds Bush (Human Genome Variation Society name: HBB:c.224G \u3e A) is an...
Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to b...
Introduction: Hemoglobinopathies are considered a major public health problem in many countries, inc...
Hemoglobin D-Punjab has been observed in several ethnic groups, either in heterozygosis or in associ...
Abstract Hemoglobin (Hb) variants may be associated with low oxygen saturation and exacerbated episo...
Hemoglobinopathies, the disorders of hemoglobin structure and synthesis, can be divided into two for...
A clinically asymptomatic 12-year-old girl showed microcytosis in routine examination. Cation exchan...
Hemoglobin (Hb) Indianapolis [beta112 (G14) Cys-->Arg] is a rare and slightly unstable beta-globin v...
Las variantes estructurales de la hemoglobina resultan, en su mayoría, de sustituciones concretas de...
We describe two unrelated patients, both heterozygous for an unstable hemoglobin (Hb) variant named ...
International audienceHb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C] is a rare β-globin gene variant t...
Hb variants are structurally abnormal haemoglobins which can originate a wide range of phenotypes fr...
AbstractA new β-variant has been detected and structurally defined in a French male, with a life-lon...
To understand the hemolytic anemia (HA) in children, the diagnostic approach and management of hered...
Unstable hemoglobin disorders are characterized by a congenital, mostly familial chronic hemolytic a...
BACKGROUND: Hemoglobin Shepherds Bush (Human Genome Variation Society name: HBB:c.224G \u3e A) is an...
Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to b...
Introduction: Hemoglobinopathies are considered a major public health problem in many countries, inc...
Hemoglobin D-Punjab has been observed in several ethnic groups, either in heterozygosis or in associ...
Abstract Hemoglobin (Hb) variants may be associated with low oxygen saturation and exacerbated episo...
Hemoglobinopathies, the disorders of hemoglobin structure and synthesis, can be divided into two for...
A clinically asymptomatic 12-year-old girl showed microcytosis in routine examination. Cation exchan...
Hemoglobin (Hb) Indianapolis [beta112 (G14) Cys-->Arg] is a rare and slightly unstable beta-globin v...