Crosstalk: Biochemical Signatures and Clinical Implications in Rare Hereditary Hemolytic Anemias (Hereditary Spherocytosis).

Abstract

Background: Clinical Hereditary Hemolytic Anemia (HAA) particularly Hereditary Spherocytosis (HS) encompasses diverse genetic disorders causing premature red blood cell destruction and intrinsic RBC defects. There's a pressing need for standardized diagnostic protocols tailored to the Asian population, particularly in Saudi Arabia, underscoring the significance of thorough blood biochemistry analysis.

Materials and methods: A case-control prospective study was conducted at King Abdulaziz University, samples were obtained from King Fahad, hospital Jeddah, Saudi Arabia, serving a significant population, and blood samples from 27 patients meeting ethical criteria for HHA and HS. Inclusion criteria included diagnosed patients of any age and sex, while exclusion criteria encompass chronic infections, metabolic diseases, pregnancy, and lactation. Blood profiling was conducted following strict protocols, aiming to glean insights into patients' management and therapeutic strategies. Despite an intended larger sample size, limitations in availability led to the inclusion of 27 patient analyses.

Results: Among 27 participants, males comprised 59.3%, females 40.7%. Anemia types indicated 22.2% Type 1 (HHA) and 77.8% Type 3 (HS). Age groups (<30, 31-59, ≥60 years) highlighted HS prevalence, notably in older individuals. Blood pressure analysis revealed age-related increases, especially in those over 60 with systolic BP (147.33 ± 9.86 mm/Hg) (p≤0.02) and diastolic BP (85.67 ± 9.01 mm/Hg) (p≤0.03) emphasizing agespecific monitoring. Temperature variations were noted across ages, significant in patients over 60 (35.93 ± 1.100C) (p≤0.09), indicating potential clinical relevance. Iron levels showed no age-related differences, while Blood Urea Nitrogen (BUN) levels rose with age, particularly in those over 60 (35.83 ± 16.67 mm/dL) (p≤0.04), suggesting age-related influence. Alkaline Phosphatase levels increased with age, especially in patients aged 31 to 59 (205.80±123.17IU/L)(p≤0.001), warranting further investigation. Similarly, Aspartate Transferase levels rose with age, especially in patients aged 31 to 59 (134.69 ± 284.58 U/L) (p≤0.01),), underlining age-specific considerations. Notable differences in BUN (15.03 mm/dL and 29.06 mm/dL)and Aspartate Transferase (33.01 U/L and 115.66 U/L) levels were observed among different anemia types with no major significant alteration in LDH.

Conclusion: The results suggest unique biochemical signatures with potential renal and hepatic implications, underscoring the importance of biochemical assessment in managing hereditary hemolytic anemias, particularly HS.