Psy33 - Feasibility of Evaluating the Burden of B-Thalassemia With German Claims Data

Abstract

were used to estimate the age-adjusted national prevalence of diagnosed HCU and PKU patients. RESULTS: Among 97.3 million patients in the MSN, 6,613 (0.068 per 1,000) had a diagnosis of HCU between 1/1/2010 and 12/31/2016, compared to 5,120 (0.053 per 1,000) with a PKU diagnosis. Of the HCU cases, 0.51% were ages 0e11 years and 80% were 45 years or older at the time of the first recorded diagnosis during the study period. For PKU cases, 53% were ages 0e11 years and 13% were 45 years or older. The estimated age-adjusted prevalence of diagnosed HCU in the US for 2017 was~0.01% (31,162 cases) vs. 0.005% (16,615 cases) for PKU. CONCLUSIONS: As expected, the highest proportion of diagnosed PKU was observed in the youngest age group (ages 0e11 years), likely due to infants being diagnosed through mandatory newborn screening. Conversely, the proportion of diagnosed HCU cases in the younger age group was approximately ten times smaller, implying that HCU patients are not diagnosed primarily at birth or during early childhood. This suggests that current newborn screening tests fail to capture the vast majority of HCU cases, with patients diagnosed at later ages, even into adulthood, when they present with symptoms or comorbid conditions indicative of HCU.

Epidemiology of clinically significant forms of alpha‐ and beta‐thalassemia: A global map of evidence and gaps

“…In 14 (61%) of these studies, only beta‐thalassemia was reported 5,21,28,30–32,34,36,38,41–45 . No papers reported solely alpha‐thalassemia.…”

“…A total of 23 studies reported population‐based estimates of beta‐thalassemia; data were from North America (including US 20,28 and the US and Canada combined 27 ), Europe (Denmark, 29 England, 24,30 France, 21,31 Germany, 32 Greece, 33 Italy, 34 the Netherlands, 35 Spain, 36,37 and the UK 38 ), Asia (Malaysia 39 and Taiwan 5 ), the Middle East (Oman, 22 Iran, 41,42 Iraq 43,44 ), and 1 country in Africa (Algeria 45 ), ranging from 0.2/100 000 people in Spain 37 in the period 2014–2017 to 49.6/100 000 people in Najaf (Iraq) in the period 2003–2018 44 (Table 1 and Figure 3A). For a limited number of countries (US, England, France, Iran, Iraq), more than one study was found in which beta‐thalassemia was reported and prevalence estimates varied moderately.…”

“…Nevertheless, in one registry study from the US and Canada where the case definitions were reported in detail, 27 beta‐thalassemia major was defined as ≥8 transfusions over 12 months while <8 transfusions over 12 months was considered beta‐thalassemia intermedia. In a German claims database analysis, a case definition that required ≥1 RBC transfusion along with an ICD‐10 code for beta‐thalassemia resulted in a much lower estimated prevalence (0.8/100 000) compared to a case definition based on an ICD‐10 diagnosis of beta‐thalassemia with no transfusion restriction (16/100 000) 32 . Additionally, there was heterogeneity in prevalence reporting across studies, with some reporting period prevalence and others point prevalence.…”

“…In a German claims database analysis, a case definition that required ≥1 RBC transfusion along with an ICD-10 code for beta-thalassemia resulted in a much lower estimated prevalence (0.8/100 000) compared to a case definition based on an ICD-10 diagnosis of beta-thalassemia with no transfusion restriction (16/100 000). 32 Additionally, there was heterogeneity in prevalence reporting across studies, with some reporting period prevalence and others point prevalence. A strength of the present SLR is its focus on clinically significant forms of thalassemia.…”

“…In 14 (61%) of these studies, only beta-thalassemia was reported. 5,21,28,[30][31][32]34,36,38,[41][42][43][44][45] No papers reported solely alphathalassemia. In 9 (39%) studies 20,24,27,29,33,35,37,39,40 alpha-thalassemia and beta-thalassemia prevalence were reported, either as separate estimates (n = 8 studies) or combined (n = 1 study).…”