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Homozygosity for dominant form of hereditary spherocytosis
1Hacettepe University Department of Paediatrics, Paediatric Haematology Unit, Ankara, Turkey.
Insights
This study presents a case of hereditary spherocytosis (HS) in an infant homozygous for dominant ankyrin deficiency. Splenectomy effectively treated the severe anemia, indicating this condition is life-compatible.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Hereditary spherocytosis (HS) is a genetic hemolytic anemia.
- Ankyrin deficiency is a known cause of HS, often inherited dominantly.
- Homozygous inheritance of dominant HS is rare and poorly understood.
Observation:
- A 6-month-old infant with severe anemia, splenomegaly, and spherocytes presented.
- The infant was the first child of a consanguineous marriage.
- Both parents exhibited mild anemia, jaundice, splenomegaly, and spherocytes, suggesting mild HS.
Findings:
- Red blood cell membrane electrophoresis revealed ankyrin deficiency in the infant and mild deficiency in both parents.
- The infant was determined to be homozygous for dominant HS with ankyrin deficiency.
- Parents were diagnosed with the simple dominant form of HS.
Implications:
- Homozygosity for dominant HS with ankyrin deficiency is compatible with life.
- Splenectomy can provide a complete hematological cure for severe HS in infants.
- This case highlights the importance of genetic counseling in consanguineous marriages presenting with inherited blood disorders.
Abstract:
A 6-month-old male infant with hereditary spherocytosis (HS) who was the first child of a cousin marriage is presented. The patient had splenomegaly and severe anaemia. Examination of the peripheral blood smear revealed spherocytes and the osmotic fragility of red blood cells was greatly increased. Physical examination of the parents revealed that both parents had mild anaemia, jaundice and splenomegaly. Their peripheral blood smears showed spherocytes and a few acanthocytes. Osmotic fragility of red blood cells of both parents were increased. Red cell membrane electrophoresis indicated a deficiency of ankyrin in the propositus; mild deficiency was also detected in both parents. Electrophoretic patterns of red cell membrane proteins suggested that the child was homozygous for the dominant form of HS associated with ankyrin deficiency, while both parents had the simple dominant form of the disease. Red blood cell transfusions were given to the patient starting at the age of 1 month until splenectomy was performed at the age of 1 year that resulted in complete haematological response. This observation indicates that homozygosity for dominant type of HS associated with ankyrin deficiency is life compatible and splenectomy may cure the anaemia.