Thalassemia and other hemoglobinopathies among anemic individuals in Metro Manila: Preliminary findings from the National Nutrition Survey

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Thalassemia and other hemoglobinopathies among anemic individuals in Metro Manila: Preliminary findings from the National Nutrition Survey Sofia V. Amarra, R.D., Ph.D ILSI Southeast Asia region

Definitions Anemia Insufficient amount of red blood cells to meet the body s physiologic needs (hemoglobin) Hemoglobin cut-offs for adults (15+ yrs) Males <130 g/l Females <120 g/l Iron deficiency Insufficient iron stores (serum ferritin) Most frequent cause of anemia Serum ferritin cut-offs (5+ yrs) <15 ug/l (depletion) >150-200 (risk of overload M & F, respectivley)

Causes of anemia other than iron deficiency Other nutrient deficiencies Folic acid B12 (cobalamin) Vitamin A Acute & chronic inflammation Parasitic infection (malaria, hookworm & other helminths) Thalassemias & other hemoglobinopathies Other infectious disease Chronic disease Gastric carcinoma Peptic ulcer disease Celiac disease Long-term use of aspirin or other NSAID Chronic kidney disease Maternal hemorrhage Other gynecologic disorders G6PD deficiency

Ranking of top causes of anemia in Southeast Asia 1990-2010 (Kassebaum et.al. 2014) Adult females Iron deficiency Hookworm disease Thalassemias Malaria Uterine fibroids Adult males Iron deficiency Hookworm disease Thalassemias Malaria Other tropical disease

Genetic hemoglobin disorders (hemoglobinopathies) Red blood cells Structurally abnormal (Hb variants) Inadequate amounts of hemoglobin chains (thalassemia) Thalassemia (Microcytic hypochromic anemia)

Consequences of genetic Hb disorders Severity of symptoms depends on severity of the disorder No symptoms (thalassemia trait) Mild to moderate anemia slowed growth, delayed puberty, bone problems, enlarged spleen Severe anemia pale & listless appearance, poor appetite, slowed growth, delayed puberty, jaundice, enlarged spleen, liver or heart, bone problems Anemia is not amenable to dietary intervention

Disordered iron metabolism

Liver iron concentration (LIC) Gold standard for measuring total body iron stores

Source: Iron Health Alliance website

ILSI SEA FNRI project Investigation of the occurrence of hemoglobinopathies among anemic individuals in the Philippines: Data from the 2013 National Nutrition Survey Consultant: Dr. Angelina Mirasol

Objectives To estimate the proportion of anemic individuals with nutritional iron deficiency vs. those with thalassemia/hemoglobinopathy To examine the factors that characterize anemic individuals with and without thalassemia (red blood cell indices, dietary intake, anthropometry, etc.)

Methods Cross-sectional survey Households in the National Capital Region (Metro Manila) Total number of individuals = 2145 Age 6-59 y Number of anemic samples = 116 (5.4%) Hemoglobinopathies determined by capillary electrophoresis (Sebia Fully Automated Capillary Separation System)

PRELIMINARY RESULTS

Prevalence of anemia (Metro Manila, 2013) % anemic Age (y) Males Females Pregnant women Total sample 6-11 1.7 1.6-12-14 1.7 4.0-15 & above 2.3 9.6 - All ages 2.2 7.8 33.3 5.4

Severity of anemia Degree of anemia 6-11 y 12-14 y 15 y & above All ages Males (%) (%) (%) (%) - Mild 33.3 100.0 76.5 72.7 - Moderate 66.7-5.9 13.6 - Severe - - 17.6 13.6 Females - Mild 66.7 75.0 58.2 59.3 - Moderate 33.3 25.0 34.2 33.7 - Severe - - 7.6 7.0 Pregnant women - - - - Mild - - - 62.5 - Moderate - - - 25.0 - Severe - - - 12.5

Screening for thalassemia and hemoglobinopathies

Distribution of abnormal Hb and IDA among anemic individuals Males Females Total A. Low MCV and low MCH No. (%) No. (%) No. (%) With hemoglobinopathy - Alpha thalassemia 7 (11.7) 14 (23.3) 21 (35.0) - Beta thalassemia 2 (3.3) 3 (5.0) 5 (8.3) - IDA concomitant HbE - 1 (1.7) 1 (1.7) - Beta thalassemia, HbE interacting - 1 (1.7) 1 (1.7) Total with hemoglobinopathy 9 (15.0) 19 (31.7) 28 (46.7) With iron deficiency anemia (IDA) 1 (1.7) 31 (51.7) 32 (53.3) B. Normal MCV and MCH In process

Extent of iron stores based on serum ferritin concentration Normal Depleted iron stores Risk of iron overload No. (%) No. (%) No. (%) Alpha thalassemia 16 (57.1) - 5 (17.9) Beta thalassemia 2 (7.1) - 3 (10.7) IDA concomitant HBE Beta thalassemia, HbE interacting - 1 (3.6) - 1 (3.6) - - Total 19 (67.9) 1 (3.6) 8 (28.6)

Implications for research Need to identify frequency of genetic Hb disorders and clarify their contribution to the burden of anemia in different geographic and demographic settings Need to define optimal cutoffs for hemoglobin that define anemia in diverse populations, esp. where hemoglobinopathies are common Need for screening surveys and micromapping studies to determine gene frequencies prior to implementing intervention programs Reference: Parischa et.al. 2013. Control of iron deficiency in low- and middle-income countries.

Implications for iron supplementation and fortification policies Need to assess the safety of iron intervention programs in hemoglobinopathy carriers Need to assess risks vs. benefits of populationwide vs. targeted coverage of iron interventions Need to increase awareness of program planners and health workers regarding effects of iron in patients with thalassemia and abnormal Hb

THANK YOU