AN INFANT WITH NOVEL MUTATION OF ALDOLASE A DEFICIENCY PRESENTED WITH NEUROMETABOLIC SIGNS AND BASOPHILIC STRIPPING ON PERIPHERAL BLOOD SMEAR
Author(s): ,
Alper Ozcan
Affiliations:
Erciyes University Medical Faculty Pediatric Hematology Oncology,Kayseri,Turkey
,
Banu Kadıoglu
Affiliations:
Erciyes University Medical Faculty Pediatric Metabolism,Kayseri,Turkey
,
Ekrem Unal
Affiliations:
Erciyes University Medical Faculty Pediatric Hematology Oncology,Kayseri,Turkey
,
Fatih Kardas
Affiliations:
Erciyes University Medical Faculty Pediatric Metabolism,Kayseri,Turkey
,
Tarık Elkatmıs
Affiliations:
Detagen Genetic Diagnose Center,Kayseri,Turkey
Sefer Kumandas
Affiliations:
Erciyes University Medical Faculty Pediatric Neurology,Kayseri,Turkey
(Abstract release date: 05/14/20) EHA Library. Ozcan A. 06/12/20; 298323; PB2410
Alper Ozcan
Alper Ozcan
Contributions
Abstract

Abstract: PB2410

Type: Publication Only

Background

Aldolase A deficiency is also known as glycogen storage disease type XII is a rare metabolic disorder. In this study, we presented the clinical features of a patient with Aldolase A deficiency who had presented with non-immune hemolytic anemia, dysmorphic facial features, idiopathic recurrent lung infections, nephrolithiasis, high level of creatinine kinase (CK), basophilic stripping  on peripheral blood smears.

Aims

An 18-months old girl whose parents were consanguine was referred to our hospital with complaints of high level of CK and hemolytic anemia from neonatal period. She had microcephaly, mild coarse facial features, eyebrows tending to meet in the middle, decay and misalignment in upper front central incisor teeth and highly arched palate. Whole blood count showed Hb: 8.4 gr/dL, RBC: 2.87 10ˆ6/µL, MCV: 93fL, MCH: 29.3, and reticulocyte: 7.14% with hemolytic features including basophilic stripping. Whole-exome sequencing analysis was performed and  a novel c.860T>C, p.(Met287Thr) homozygote mutation was found in exon 8 of ALDOA gene.

 

Methods

Aldolase A deficiency is a very rare disease. A few cases were reported in the English Medical literature. To best of our knowledge we report the first Turkish patient with aldolase A deficiency.

Results
.

Conclusion
Metabolic causes of hemolytic anemias should be considered in cases complicated with additional clinical and laboratory findings. Furthermore high level of CK and rhabdomyolysis can be clues for the fatal underlying aldolase A deficiency

Session topic: 28. Enzymopathies, membranopathies and other anemias

Keyword(s): Anemia, Children, Hemolytic anemia, Red blood cell

Abstract: PB2410

Type: Publication Only

Background

Aldolase A deficiency is also known as glycogen storage disease type XII is a rare metabolic disorder. In this study, we presented the clinical features of a patient with Aldolase A deficiency who had presented with non-immune hemolytic anemia, dysmorphic facial features, idiopathic recurrent lung infections, nephrolithiasis, high level of creatinine kinase (CK), basophilic stripping  on peripheral blood smears.

Aims

An 18-months old girl whose parents were consanguine was referred to our hospital with complaints of high level of CK and hemolytic anemia from neonatal period. She had microcephaly, mild coarse facial features, eyebrows tending to meet in the middle, decay and misalignment in upper front central incisor teeth and highly arched palate. Whole blood count showed Hb: 8.4 gr/dL, RBC: 2.87 10ˆ6/µL, MCV: 93fL, MCH: 29.3, and reticulocyte: 7.14% with hemolytic features including basophilic stripping. Whole-exome sequencing analysis was performed and  a novel c.860T>C, p.(Met287Thr) homozygote mutation was found in exon 8 of ALDOA gene.

 

Methods

Aldolase A deficiency is a very rare disease. A few cases were reported in the English Medical literature. To best of our knowledge we report the first Turkish patient with aldolase A deficiency.

Results
.

Conclusion
Metabolic causes of hemolytic anemias should be considered in cases complicated with additional clinical and laboratory findings. Furthermore high level of CK and rhabdomyolysis can be clues for the fatal underlying aldolase A deficiency

Session topic: 28. Enzymopathies, membranopathies and other anemias

Keyword(s): Anemia, Children, Hemolytic anemia, Red blood cell

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