What blood type and genetic predispositions are relevant for an 11-year-old patient of Indian origin?

Blood Work Relevant for an 11-Year-Old Patient of Indian Origin

For an 11-year-old child of Indian origin, the most critical blood tests include complete blood count with peripheral smear examination, hemoglobin electrophoresis to screen for β-thalassemia trait (carrier frequency 3.3% in India), and assessment for hemoglobin variants including HbD-Punjab and HbE, which are prevalent in the Indian subcontinent. 1, 2, 3

Essential Hematologic Screening

Thalassemia and Hemoglobinopathy Screening

• β-thalassemia screening is paramount as India has a mean carrier frequency of 3.3%, with 7,500-12,000 children born annually with β-thalassemia major 1
• Measure mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH), as carriers characteristically show low values with elevated hemoglobin A2 (>4%) 1
• Hemoglobin electrophoresis should be performed to identify structural variants including HbD-Punjab (common in North-Western India but reported in South India), HbE, and HbS 2, 3
• Screen for co-inheritance patterns such as HbSD-Punjab disease, which presents with severe clinical manifestations requiring management similar to sickle cell disease 3

Complete Blood Count with Differential

• Obtain CBC to identify isolated thrombocytopenia versus pancytopenia, which helps differentiate primary from secondary causes 4
• Peripheral blood smear examination by a qualified hematologist is mandatory to exclude pseudothrombocytopenia and identify morphologic abnormalities such as schistocytes, giant platelets, or leukocyte inclusion bodies 5, 4
• Assess for microcytic hypochromic anemia patterns that may indicate iron deficiency (common in India due to nutritional factors) or thalassemia trait 2

Bleeding Disorder Assessment for Indian Population

Inherited Bleeding Disorders

• Hemophilia A remains the most common inherited bleeding disorder in Indians (42.4%), closely followed by platelet function defects (39.4%), which differs from Western populations 6
• Von Willebrand disease is relatively rare in the Indian population compared to industrialized countries 6
• If bleeding history is present, measure prothrombin time (PT), activated partial thromboplastin time (aPTT), and consider specific factor levels (VIII, IX, XI) based on clinical suspicion 5
• For patients of Ashkenazi Jewish ancestry (if applicable), factor XI deficiency screening may be reasonable given higher prevalence 5

Platelet Evaluation

• Perform platelet count and assess for thrombocytopenia, which may indicate inherited conditions such as MYH9-related disease, Bernard-Soulier syndrome, or Wiskott-Aldrich syndrome 5, 4
• Mild to moderate thrombocytopenia with increased platelet volume is common in certain genetic syndromes (e.g., 22q11.2 deletion syndrome) 5

Additional Relevant Testing Based on Clinical Context

Autoimmune and Metabolic Screening

• Consider tissue transglutaminase antibodies with total serum IgA levels for celiac disease screening, particularly if growth failure, weight loss, or gastrointestinal symptoms are present 5
• Measure antithyroid antibodies if clinical signs suggest thyroid dysfunction 5
• Blood pressure measurement at each visit, with confirmation on three separate days if elevated (≥90th percentile for age, sex, height) 5

Ethnic-Specific Genetic Considerations

• For moyamoya disease screening (if neurological symptoms present), Asian Americans have 4.6 times higher incidence than whites, with peak presentation in the first decade of life 5
• HLA typing may be relevant if specific autoimmune conditions are suspected, as certain HLA haplotypes (HLA-B40 in children <10 years, HLA-B52 in those >10 years) are associated with moyamoya disease 5

Iron Status Assessment

• Measure serum ferritin and transferrin saturation, as iron deficiency anemia is highly prevalent in India due to nutritional factors 2
• Iron indices help differentiate iron deficiency from thalassemia trait, both of which cause microcytic anemia 1, 2

Critical Diagnostic Pitfalls to Avoid

• Do not attribute all pallor to iron deficiency alone—always consider hemoglobinopathies in Indian children with microcytic anemia 2
• Pseudothrombocytopenia due to EDTA-dependent platelet agglutination must be excluded before pursuing extensive thrombocytopenia workup 5
• Co-inheritance of multiple hemoglobin variants (HbSD-Punjab, HbSE, HbD-Punjab E) can produce variable clinical presentations ranging from asymptomatic to severe, requiring careful interpretation of electrophoresis results 3
• Reticulocyte count should be assessed if anemia is present to distinguish production defects from hemolytic processes 5