Abstract
BackgroundAnemia is one of the most common diseases affecting children worldwide. Hereditary forms of anemia due to gene mutations are difficult to diagnose because they only rely on clinical manifestations. In regions with high prevalence of thalassemia such as southern China, pediatric patients with a hereditary hemolytic anemia (HHA) phenotype are often diagnosed with β-thalassemia. However, HHA can be caused by other gene defects. Here, a case previously diagnosed with thalassemia in a local hospital was sent to our laboratory for further genetic diagnosis. Preliminary molecular testing did not identify any mutations in globin genes.MethodsAll blood samples were collected after informed consent had been obtain from the proband’s parents. Both clinical and genetic analyses were conducted for the patient and her family members, including clinical data collection and sequencing of the KLF1 gene. Relevant literature was reviewed, including genetically confirmed cases with well-documented clinical summaries.ResultsBased on the detailed clinical data for this case, we diagnosed the patient with severe HHA. Sanger sequencing confirmed that there was a mutation on each KLF1 allele in the proband, which is missense mutation c.892G > C (p.Ala298Pro) inherited from father and frameshift mutation c.525_526insCGGCGCC (p.Gly176Argfs∗179) from the mother, respectively. A summary of the KLF1 mutation spectrum and a clarification of genotype–phenotype correlation were performed through a combined analysis of the case and literature studies.ConclusionThis study corrected the misdiagnosis and identified the etiology in a Chinese patient with HHA. Identification of the disease-causing gene is important for the treatment and care of the patient and prevention of another affected childbirth in her family. In addition, this study provided insight to better distinguish HHA patients with β-thalassemia mutations from those with KLF1 mutations.
Highlights
Anemia is the most common blood disease worldwide (Kassebaum et al, 2014), which is defined by a hemoglobin (Hb) level below the normal value, leading to decreased oxygencarrying capacity
We present a summary of relevant literature on the mutation spectrum of the Kruppel-like factor 1 (KLF1) gene
Routine evaluations excluded the possibility of immune hemolysis and red blood cells (RBCs) membrane disorder
Summary
Anemia is the most common blood disease worldwide (Kassebaum et al, 2014), which is defined by a hemoglobin (Hb) level below the normal value, leading to decreased oxygencarrying capacity. Patients with hereditary anemia are often concerned by pediatricians because they are difficult to diagnose and cannot be cured completely with conventional treatment. For such patients, especially those who depend on regular transfusions, a better understanding of etiology and more accurate diagnostic methods are crucial for subsequent treatment and care. Anemia is one of the most common diseases affecting children worldwide. Hereditary forms of anemia due to gene mutations are difficult to diagnose because they only rely on clinical manifestations. In regions with high prevalence of thalassemia such as southern China, pediatric patients with a hereditary hemolytic anemia (HHA) phenotype are often diagnosed with β-thalassemia. Preliminary molecular testing did not identify any mutations in globin genes
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