2004
DOI: 10.1002/ajh.20128
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Severe hemolytic anemia associated with Hb Volga [β27(B9)Ala→Asp]: GCC→GAC at codon 27 in a Turkish family

Abstract: A boy presented at age 4 years with severe congenital hemolytic anemia characterized by highly elevated reticulocyte count (30-50%) and prominent basophilic stippling. Hb had been 4 g/dL at age 7 months. The patient was on a monthly transfusion regimen up to the age of 7 years, when he underwent splenectomy. After removal of the spleen, his Hb stabilized at 11 g/dL. No abnormal pattern was detected in hemoglobin electrophoresis at pH 9 and 6. In-vitro globin synthesis revealed the presence of an abnormal b-cha… Show more

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Cited by 6 publications
(4 citation statements)
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“…It has been found in patients with different ethnic backgrounds [5,6,[19][20][21][22][23]. Heterozygotes have reticulocytosis and abnormal appearing erythrocytes with basophilic stippling.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…It has been found in patients with different ethnic backgrounds [5,6,[19][20][21][22][23]. Heterozygotes have reticulocytosis and abnormal appearing erythrocytes with basophilic stippling.…”
Section: Discussionmentioning
confidence: 99%
“…The other patient was compound heterozygous for Hb S and an unstable variant b-globin chain, Hb Volga (HBB Ala27Asp), which elutes on HPLC at the same position as Hb A [5].…”
Section: Introductionmentioning
confidence: 99%
“…The clinical and haematological features of P5′N deficiency are not distinctive, although the blood film gives a strong clue as to the diagnosis when marked red cell basophilic stippling is seen. Basophilic stippling is a constant but not specific finding in this disease, occasionally occurring in other congenital or acquired conditions, such as β ‐thalassaemia trait (Vives Corrons et al , 1984; Joishy et al , 1986), some haemoglobin variants (Sozen et al , 2004), sideroblastic anaemia or lead poisoning. The diagnosis ultimately depends upon the demonstration of high concentrations of pyrimidine nucleotides and a reduced P5′N‐1 activity in red blood cells.…”
Section: Clinical Haematological and Diagnostic Aspects Of P5′n Defimentioning
confidence: 99%
“…First case had severe anemia (Hb 4.3 g/dl) and both cases had reduced MCV levels and raised Hb A2.The clinical and hematological features of both the cases of lead poisoning not distinctive, although the blood film gives a strong clue as to the diagnosis when marked red cell basophilic stippling is seen. Basophilic stippling is a constant but not specific finding in this disease, occasionally occurring in other congenital or acquired conditions, such as β-thalassemia trait, some hemoglobin variants, sideroblastic anemia or pyrimidine 5'nucleotidase deficiency [8][9][10]. The lead poisoning diagnosis ultimately depends upon the high level of lead content in blood and high concentrations of pyrimidine nucleotides and a reduced P5'N-1 activity in red blood cells [11].…”
Section: Case-2mentioning
confidence: 99%