[Hemoglobin O Arab in interaction with beta 0-thalassemia]

Area of Science:

• Hematology
• Medical Genetics

Background:

• Reporting the first documented case of Hemoglobin O-Arab (Hb O-Arab) in conjunction with beta 0-thalassemia in Yugoslavia.
• This case involves a 26-year-old female presenting with symptoms indicative of severe anemia and related complications.

Observation:

• The patient exhibited clinical signs of anemia, hepatosplenomegaly, and fatigue.
• Laboratory results revealed low hemoglobin levels, abnormal red blood cell indices, elevated bilirubin, and iron levels.
• Hemoglobin electrophoresis showed the presence of Hb O-Arab (85%) and Hb F (15%), with an absence of Hb A.

Findings:

• Familial screening confirmed the father was heterozygous for Hb O-Arab and the mother heterozygous for beta-thalassemia.
• In vitro biosynthesis studies demonstrated a complete absence of beta-globin synthesis and reduced synthesis of other globin chains.
• Amino acid analysis identified the specific mutation in Hb O-Arab as a substitution of lysine for glutamic acid at position 121 of the beta chain (beta 121 Glu----Lys).

Implications:

• This case highlights the genetic complexities of hemoglobinopathies and their clinical manifestations.
• Understanding the molecular basis of Hb O-Arab and its interaction with beta-thalassemia is crucial for genetic counseling and diagnosis.
• Further research into the synthesis and structure of abnormal hemoglobins can improve diagnostic and therapeutic strategies for inherited blood disorders.