Rare Diseases Symptoms Automatic Extraction

Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia.

[alpha-thalassemia]

To analyze the frequency of β(S)-globin haplotypes and alpha-thalassemia, and their influence on clinical manifestations and the hematological profile of children with sickle cell anemia.The frequency of β(S)-globin haplotypes and alpha-thalassemia and any association with clinical and laboratorial manifestations were determined in 117 sickle cell anemia children aged 3-71 months. The confirmation of hemoglobin SS and determination of the haplotypes were achieved by polymerase chain reaction-restriction fragment length polymorphism, and alpha-thalassemia genotyping was by multiplex polymerase chain reaction (single-tube multiplex-polymerase chain reaction).The genotype distribution of haplotypes was 43 (36.7%) Central African Republic/Benin, 41 (35.0%) Central African Republic/Central African Republic, 20 (17.0%) Rare/atypical, and 13 (11.1%) Benin/Benin. The frequency of the α3.7 deletion was 1.71% as homozygous (-α3.7/-α3.7) and 11.9% as heterozygous (-α3.7/αα). The only significant association in respect to haplotypes was related to the mean corpuscular volume. The presence of alpha-thalassemia was significantly associated to decreases in mean corpuscular volume, mean corpuscular hemoglobin and reticulocyte count and to an increase in the red blood cell count. There were no significant associations of β(S)-globin haplotypes and alpha-thalassemia with clinical manifestations.In the study population, the frequency of alpha-thalassemia was similar to published data in Brazil with the Central African Republic haplotype being the most common, followed by the Benin haplotype. β(S)-globin haplotypes and interaction between alpha-thalassemia and sickle cell anemia did not influence fetal hemoglobin concentrations or the number of clinical manifestations.

Diseases presenting "blood cell count" symptom

  • alpha-thalassemia
  • aromatase deficiency
  • cutaneous mastocytosis
  • esophageal squamous cell carcinoma
  • familial mediterranean fever
  • pyomyositis
  • systemic capillary leak syndrome

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